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Items: 12

Select item 35762941.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

Aleksander Jamsheer, Anna Sowińska, Dorota Simon, Małgorzata Jamsheer-Bratkowska, Tomasz Trzeciak, Anna Latos-Bieleńska

BMC Med Genet. 2013; 14: 13. Published online 2013 Jan 24. doi: 10.1186/1471-2350-14-13

PMCID:: PMC3576294

Article PDF–966K

Select item 34007302.

TBX5 intragenic duplication: a family with an atypical Holt–Oram syndrome phenotype

Chirag Patel, Lee Silcock, Dominic McMullan, Louise Brueton, Helen Cox

Eur J Hum Genet. 2012 Aug; 20(8): 863–869. Published online 2012 Feb 15. doi: 10.1038/ejhg.2012.16

PMCID:: PMC3400730

Article PDF–436K

Select item 25646233.

Breakpoints around the HOXD cluster result in various limb malformations

B Dlugaszewska, A Silahtaroglu, C Menzel, S Kübart, M Cohen, S Mundlos, Z Tümer, K Kjaer, U Friedrich, H‐H Ropers, N Tommerup, H Neitzel, V M Kalscheuer

J Med Genet. 2006 Feb; 43(2): 111–118. Published online 2005 Jun 24. doi: 10.1136/jmg.2005.033555

PMCID:: PMC2564623

Article PDF–814K

Select item 109290694.

New Documentation System for Ulnar Longitudinal Deficiency

N. K. Sferopoulos

Eplasty. 2024; 24: e3. Published online 2024 Jan 19.

PMCID:: PMC10929069

Article PDF–2.3M

Select item 100205265.

Literature review, report, and analysis of genotype and clinical phenotype of a rare case of ulnar-mammary syndrome

Xiwen Zhang, Lifen Chen, Lin Li, Jingjing An, Qinyu He, Xuelei Zhang, Wenli Lu, Yuan Xiao, Zhiya Dong

Front Pediatr. 2023; 11: 1052931. Published online 2023 Mar 3. doi: 10.3389/fped.2023.1052931

PMCID:: PMC10020526

Article PDF–3.0M

Select item 77204936.

Short and sweet: foreleg abnormalities in Havanese and the role of the FGF4 retrogene

Kim K. L. Bellamy, Frode Lingaas

Canine Med Genet. 2020; 7: 19. Published online 2020 Dec 7. doi: 10.1186/s40575-020-00097-5

PMCID:: PMC7720493

Article PDF–715K

Select item 55230527.

Holt-Oram Syndrome: A Rare Variant

Binoy Shankar, Euden Bhutia, Dinesh Kumar, Sunil Kishore, Shakti Pad Das

Iran J Med Sci. 2017 Jul; 42(4): 416–419.

PMCID:: PMC5523052

Article PDF–417K

Select item 38725948.

Ulnar aplasia, dysplastic radius and preaxial oligodactyly: Rare longitudinal limb defect in a sporadic male child

Sajid Malik, Muhammad Afzal

J Res Med Sci. 2013 Sep; 18(9): 818–821.

PMCID:: PMC3872594

Article PDF–730K

Select item 57897359.

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

Mohammad M. Al-Qattan, Doaa F. Andejani, Nadia A. Sakati, Khushnooda Ramzan, Faiqa Imtiaz

BMC Med Genet. 2018; 19: 18. Published online 2018 Jan 30. doi: 10.1186/s12881-018-0531-y

PMCID:: PMC5789735

Article PDF–3.2M

Select item 305801910.

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

Maria Francesca Bedeschi, Vera Bianchi, Barbara Gentilin, Lorenzo Colombo, Federica Natacci, Sabrina Giglio, Elena Andreucci, Laura Trespidi, Barbara Acaia, Andrea Superti Furga, Faustina Lalatta

Orphanet J Rare Dis. 2011; 6: 7. Published online 2011 Feb 28. doi: 10.1186/1750-1172-6-7