PMC Articles for MedGen (Select 266151) - PMC

Select item 107278611.

Missense Variant c.3301C>T (p.R1101W) in von Willebrand Factor A Sequence in a Patient with Recessive Dystrophic Epidermolysis Bullosa Pruriginosa with Compound Heterozygous COL7A1 Variants

Hyeok-Jin Kwon, Dong-Wha Yoo, Jung-Ho Yoon, Namhee Kim, Ki-Ho Kim

Ann Dermatol. 2023 Nov; 35(Suppl 2): S195–S200. Published online 2023 Oct 27. doi: 10.5021/ad.21.176

PMCID:: PMC10727861

Abstract Article PDF–383K

Select item 106555082.

Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab

Caichou Zhao, Shuanglin Cao, Xinghua Gao, Xuegang Xu, Lixiong Gu

Mol Genet Genomic Med. 2023 Nov; 11(11): e2258. Published online 2023 Sep 7. doi: 10.1002/mgg3.2258

PMCID:: PMC10655508

Abstract Article PDF–1.2M

Select item 105629583.

Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole‑exome sequencing

Yanhui Yang, Yangmin Gao, Mengna Zhang, Hua Qian, Ke Zhao, Weijuan Wang, Yanxiu Ma, Dan Zhang, Xiaoguang Li, Fengming Hu, Xiaoming Sun

Exp Ther Med. 2023 Nov; 26(5): 502. Published online 2023 Sep 11. doi: 10.3892/etm.2023.12201

PMCID:: PMC10562958

Abstract Article PDF–1.3M

Select item 104807444.

Epidermolysis bullosa pruriginosa: A case report of two first cousins

Maria Zahoor

Pak J Med Sci. 2023 Sep-Oct; 39(5): 1545–1547. doi: 10.12669/pjms.39.5.6764

PMCID:: PMC10480744

Abstract Article PDF–1.5M

Select item 80807325.

Misdiagnosed dystrophic epidermolysis bullosa pruriginosa: A case report

Zi Wang, Yi Lin, Xing-Wu Duan, Hai-Yan Hang, Xia Zhang, Ling-Ling Li

World J Clin Cases. 2021 May 6; 9(13): 3090–3094. Published online 2021 May 6. doi: 10.12998/wjcc.v9.i13.3090

PMCID:: PMC8080732

Abstract Article PDF–3.1M

Select item 39374876.

Epidermolysis bullosa pruriginosa: A report of two cases

Varadraj Vasant Pai, Tukaram Sori, Kikkeri Narayanshetty Naveen, Sharatchandra Bhimrao Athanikar, Vijetha Rai, Dinesh Udupi Shastry

Indian Dermatol Online J. 2014 Jan-Mar; 5(1): 44–47. doi: 10.4103/2229-5178.126030

PMCID:: PMC3937487

Abstract Article PDF–3.7M

Select item 37092447.

An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred

Catherine S Yang, Yin Lu, Anita Farhi, Carol Nelson-Williams, Michael Kashgarian, Earl J Glusac, Richard P Lifton, Richard J Antaya, Keith A Choate

Pediatr Dermatol. 2012 Nov; 29(6): 725–731. Published online 2012 Apr 20. doi: 10.1111/j.1525-1470.2012.01757.x

PMCID:: PMC3709244

Abstract Article PDF–472K

Select item 106860018.

Epidermolysis bullosa in a mother-infant dyad

R R Prashanth, Pramod Dhanraj Kamble, Abhilasha Kumari, Anitha Haribalakrishna, Sunanda Arun Mahajan

Oxf Med Case Reports. 2023 Nov; 2023(11): omad124. Published online 2023 Nov 28. doi: 10.1093/omcr/omad124

PMCID:: PMC10686001

Abstract Article PDF–1.1M

Select item 97956519.

Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients

Wei-Ting Tu, Ping-Chen Hou, Peng-Chieh Chen, Wan-Rung Chen, Hsin-Yu Huang, Jing-Yu Wang, Yi-Ting Huang, Yi-Huei Wu, Chun-Lin Su, Yen-An Tang, Hiroaki Iwata, Ken Natsuga, Sheau-Chiou Chao, H. Sunny Sun, Ming-Jer Tang, Julia Yu-Yun Lee, John A. McGrath, Chao-Kai Hsu

Orphanet J Rare Dis. 2022; 17: 451. Published online 2022 Dec 28. doi: 10.1186/s13023-022-02605-1

PMCID:: PMC9795651

Abstract Article PDF–5.8M

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