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Select item 35672751.

Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2

Pierre Moffatt, Mouna Ben Amor, Francis H. Glorieux, Paul Roschger, Klaus Klaushofer, Jeremy A. Schwartzentruber, Andrew D. Paterson, Pingzhao Hu, Christian Marshall, FORGE Canada Consortium, Somayyeh Fahiminiya, Jacek Majewski, Chandree L. Beaulieu, Kym M. Boycott, Frank Rauch

Am J Hum Genet. 2013 Feb 7; 92(2): 252–258. doi: 10.1016/j.ajhg.2012.12.001

PMCID:: PMC3567275

Abstract Article PDF–761K

Select item 61172642.

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication

Amina Al-Yassin, Alistair D. Calder, Mike Harrison, Tracy Lester, Helen Lord, Michael Oldridge, Sophie Watkins, Richard Keen, Emma L. Wakeling

Eur J Hum Genet. 2018 Sep; 26(9): 1288–1293. Published online 2018 Jun 11. doi: 10.1038/s41431-018-0166-7

PMCID:: PMC6117264

Abstract Article PDF–4.7M

Select item 111054173.

Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway

Takeshi Oichi, Yuki Taniguchi, Kazuhito Soma, Yasushi Oshima, Fumiko Yano, Yoshifumi Mori, Ryota Chijimatsu, Joo-ri Kim-Kaneyama, Sakae Tanaka, Taku Saito

Cell Mol Life Sci. 2019 Dec; 76(23): 4795–4809. Published online 2019 Jun 14. doi: 10.1007/s00018-019-03188-0

Correction in:: Cell Mol Life Sci. 2019 Dec; 76(23): 4811–4812.

PMCID:: PMC11105417

Abstract Article PDF–6.4M

Select item 110772744.

Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations

Diana-Alexandra Ertl, Guiomar Perez de Nanclares, Harald Jüppner, Patrick Hanna, Angela Pagnano, Arrate Pereda, Anya Rothenbuhler, Giulia Del Sindaco, Pilar Ruiz-Cuevas, Christelle Audrain, Arancha Escribano, Jugurtha Berkenou, Andreas Gleiss, Giovanna Mantovani, Agnès Linglart

Eur J Endocrinol. Author manuscript; available in PMC 2024 May 8.

Published in final edited form as: Eur J Endocrinol. 2023 Jul 20; 189(1): 123–131. doi: 10.1093/ejendo/lvad085

PMCID:: PMC11077274

Abstract Article PDF–786K

Select item 110443265.

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

Fabio Sippelli, Silvana Briuglia, Chiara Ferraloro, Anna Paola Capra, Emanuele Agolini, Tiziana Abbate, Giorgia Pepe, Tommaso Aversa, Malgorzata Wasniewska, Domenico Corica

BMC Pediatr. 2024; 24: 271. Published online 2024 Apr 25. doi: 10.1186/s12887-024-04761-8

PMCID:: PMC11044326

Abstract Article PDF–981K

Select item 109849946.

The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice

Han Wang, Xiumin Chen, Xiaolu Meng, Yixuan Cao, Shirui Han, Keqiang Liu, Ximeng Zhao, Xiuli Zhao, Xue Zhang

Bone Res. 2024; 12: 21. Published online 2024 Apr 1. doi: 10.1038/s41413-024-00322-y

PMCID:: PMC10984994

Abstract Article PDF–3.5M

Select item 109725947.

ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia

Vladimir Camarena, Monique M. Williams, Alejo A. Morales, Mohammad F. Zafeer, Okan V. Kilic, Ali Kamiar, Clemer Abad, Monica A. Rasmussen, Laurence M. Briski, LéShon Peart, Guney Bademci, Deborah S. Barbouth, Sarah Smithson, Gaofeng Wang, Lina A. Shehadeh, Katherina Walz, Mustafa Tekin

JCI Insight. 2024 Mar 8; 9(5): e174417. Published online 2024 Feb 1. doi: 10.1172/jci.insight.174417

PMCID:: PMC10972594

Abstract Article PDF–6.0M

Select item 109334048.

Suppression of apoptosis impairs phalangeal joint formation in the pathogenesis of brachydactyly type A1

Adrian On Wah Leung, Andrew Chung Hin Poon, Xue Wang, Chen Feng, Peikai Chen, Zhengfan Zheng, Michael KaiTsun To, Wilson Cheuk Wing Chan, Martin Cheung, Danny Chan

Nat Commun. 2024; 15: 2229. Published online 2024 Mar 12. doi: 10.1038/s41467-024-45053-0

PMCID:: PMC10933404

Abstract Article PDF–7.8M

Select item 109066949.

Type 1 diabetes in a patient with Ellis-van Creveld syndrome

Carla Graziadio, Pricila Bernardi, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin

Sao Paulo Med J. 2012; 130(1): 53–56. Published online 2012 Feb 13. doi: 10.1590/S1516-31802012000100009

PMCID:: PMC10906694

Abstract Article PDF–406K

Select item 1086857410.

Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation

Peng Fan, Di Zhang, Kun-Qi Yang, Qiong-Yu Zhang, Fang Luo, Ying Lou, Ya-Xin Liu, Hui-Min Zhang, Lei Song, Jun Cai, Hai-Ying Wu, Xian-Liang Zhou

Am J Hypertens. 2020 Feb; 33(2): 190–197. Published online 2019 Sep 24. doi: 10.1093/ajh/hpz151

PMCID:: PMC10868574

Abstract Article

Select item 1085345411.

ADAM19 cleaves the PTH receptor and associates with brachydactyly type E

Atakan Aydin, Christoph Klenk, Katarina Nemec, Ali Işbilir, Lisa M Martin, Henrik Zauber, Trendelina Rrustemi, Hakan R Toka, Herbert Schuster, Maolian Gong, Sigmar Stricker, Andreas Bock, Sylvia Bähring, Matthias Selbach, Martin J Lohse, Friedrich C Luft

Life Sci Alliance. 2024 Apr; 7(4): e202302400. Published online 2024 Feb 8. doi: 10.26508/lsa.202302400

PMCID:: PMC10853454

Abstract Article PDF–2.5M

Select item 1084483812.

A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature

Jian Sun, Nian Yang, Zhengquan Xu, Hongbo Cheng, Xiangxin Zhang

Mol Genet Genomic Med. 2024 Feb; 12(2): e2393. Published online 2024 Feb 5. doi: 10.1002/mgg3.2393

PMCID:: PMC10844838

Abstract Article PDF–2.0M

Select item 1070212813.

Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia

Lin Zhou, Jing Chen, Qian Liu, Shuting Yang, Wanqin Xie, Ying Peng

Front Endocrinol (Lausanne) 2023; 14: 1267946. Published online 2023 Nov 23. doi: 10.3389/fendo.2023.1267946

PMCID:: PMC10702128

Abstract Article PDF–4.6M

Select item 1062094414.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian

Genet Med. 2023 Jan; 25(1): 135–142. doi: 10.1016/j.gim.2022.09.016

PMCID:: PMC10620944

Abstract Article PDF–1.9M

Select item 1016334615.

The non-canonical Wnt receptor Ror2 is required for cartilage cell polarity and morphogenesis of the craniofacial skeleton in zebrafish

Daniel B. Dranow, Pierre Le Pabic, Thomas F. Schilling

Development. 2023 Apr 15; 150(8): dev201273. Published online 2023 Apr 21. doi: 10.1242/dev.201273

PMCID:: PMC10163346

Abstract Article

Select item 997278316.

IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)

Pauline De Kinderen, Silke Peeters, Laura Rabaut, Geert Mortier, Peter Ponsaerts, Bart Loeys, Aline Verstraeten, Josephina A.N. Meester

Stem Cell Res. 2023 Mar; 67: 103024. doi: 10.1016/j.scr.2023.103024

PMCID:: PMC9972783

Abstract Article

Select item 995752217.

Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review

Eva-Cristiana Gavril, Irina Nucă, Monica-Cristina Pânzaru, Anca Viorica Ivanov, Cosmin-Teodor Mihai, Lucian-Mihai Antoci, Cristian-Gabriel Ciobanu, Cristina Rusu, Roxana Popescu

Genes (Basel) 2023 Feb; 14(2): 465. Published online 2023 Feb 11. doi: 10.3390/genes14020465

PMCID:: PMC9957522

Abstract Article PDF–2.1M

Select item 990505618.

Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment

Giulia Rodari, Roberta Villa, Matteo Porro, Silvana Gangi, Maria Iascone, Francesca Elli, Federico Giacchetti, Eriselda Profka, Valentina Collini, Alberta Dall’Antonia, Maura Arosio, Giovanna Mantovani, Maria Francesca Bedeschi, Claudia Giavoli

Eur J Hum Genet. 2023 Feb; 31(2): 195–201. Published online 2022 Nov 9. doi: 10.1038/s41431-022-01220-9

PMCID:: PMC9905056

Abstract Article PDF–989K

Select item 975933219.

Natural history of KBG syndrome in a large European cohort

Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Francesca Fava, Michele Carullo, Elisa Rahikkala, Guillaume Jouret, Leonie A Menke, Damien Lederer, Pascal Vrielynck, Lukáš Ryba, Nicola Brunetti-Pierri, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Laura Trujillano, Irene Valenzuela, Eduardo F Tizzano, Alessandro Mauro Spinelli, Irene Bruno, Aurora Currò, Franco Stanzial, Francesco Benedicenti, Diego Lopergolo, Filippo Maria Santorelli, Constantia Aristidou, George A Tanteles, Isabelle Maystadt, Tinatin Tkemaladze, Tiia Reimand, Helen Lokke, Katrin Õunap, Maria K Haanpää, Andrea Holubová, Veronika Zoubková, Martin Schwarz, Riina Žordania, Kai Muru, Laura Roht, Annika Tihveräinen, Rita Teek, Ulvi Thomson, Isis Atallah, Andrea Superti-Furga, Sabrina Buoni, Roberto Canitano, Valeria Scandurra, Annalisa Rossetti, Salvatore Grosso, Roberta Battini, Margherita Baldassarri, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Mirella Bruttini, Francesca Mari, Francesca Ariani, Alessandra Renieri, Anna Maria Pinto

Hum Mol Genet. 2022 Dec 15; 31(24): 4131–4142. Published online 2022 Jul 21. doi: 10.1093/hmg/ddac167

PMCID:: PMC9759332

Abstract Article PDF–1.5M

Select item 954507420.

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

Madeline Louise Reilly, Noor ul Ain, Mari Muurinen, Alice Tata, Céline Huber, Marleen Simon, Tayyaba Ishaq, Nick Shaw, Salla Rusanen, Minna Pekkinen, Wolfgang Högler, Maarten F. C. M. Knapen, Myrthe van den Born, Sophie Saunier, Sadaf Naz, Valérie Cormier‐Daire, Alexandre Benmerah, Outi Makitie

J Bone Miner Res. 2022 Sep; 37(9): 1642–1652. Published online 2022 Jul 19. doi: 10.1002/jbmr.4639

PMCID:: PMC9545074

Abstract Article PDF–9.1M

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