Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy-Reference-Cited by-同舟云学术

Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy

Author:

Yesudian P. D.¹,Cabral R. M.²,Ladusans E.³,Spinty S.⁴,Gibbs J.⁵,Fryer A.⁶,Christiano A. M.²,Mendelsohn S. S.⁷

Affiliation:

1. Department of Dermatology; Glan Clwyd Hospital; Bodelwyddan UK

2. Department of Dermatology; Columbia University; Russ Berrie Medical Science Pavilion; New York NY USA

3. Department of Paediatric Cardiology; Alder Hey Children's Hospital; Liverpool UK

4. Department of Neurosciences; Alder Hey Children's Hospital; Liverpool UK

5. Departments of Paediatrics; Countess of Chester Hospital; Chester UK

6. Department of Genetics; Alder Hey Children's Hospital; Liverpool UK

7. Department of Dermatology; Countess of Chester Hospital; Chester UK

Publisher

Wiley

Subject

Dermatology

Link

Reference10 articles.

1. Genetic diseases of junctions;Lai-Cheong;J Invest Dermatol,2007

2. Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure;Choi;Nat Struct Biol,2002

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