Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy

✍ Scribed by Yesudian, P. D.; Cabral, R. M.; Ladusans, E.; Spinty, S.; Gibbs, J.; Fryer, A.; Christiano, A. M.; Mendelsohn, S. S.

• Book ID: 124055368
• Publisher: John Wiley and Sons
• Year: 2014
• Tongue: English
• Weight: 214 KB
• Volume: 39
• Category: Article
• ISSN: 0307-6938
• DOI: 10.1111/ced.12329