Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome

Mutation inKANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair

(2014) Yuval Ramot et al.   JOURNAL OF MEDICAL GENETICS

Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

(2012) TB Rasmussen et al.   CLINICAL GENETICS

Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia

(2012) Stéphane Boulé et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma

(2011) Tatjana Williams et al.   Clinical Research in Cardiology

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study

(2011) P. Garcia-Pavia et al.   HEART

Arrhythmogenic Dilated Cardiomyopathy Due to a Novel Mutation in the Desmoplakin Gene

(2010) Sriram Krishnamurthy et al.   INDIAN JOURNAL OF PEDIATRICS

A New Hypo/Oligodontia Syndrome

(2010) L. Chalabreysse et al.   JOURNAL OF DENTAL RESEARCH

Compound Heterozygous Desmoplakin Mutations Result in a Phenotype with a Combination of Myocardial, Skin, Hair, and Enamel Abnormalities

(2009) My G. Mahoney et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Homozygous Mutation of Desmocollin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy with Mild Palmoplantar Keratoderma and Woolly Hair

(2008) M.A. Simpson et al.   CARDIOLOGY