A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome

Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form

(2010) E Sbidian et al.   CLINICAL GENETICS

A Novel Dominant and a De Novo Mutation in the GJB2 Gene (Connexin-26) Cause Keratitis-Ichthyosis-Deafness Syndrome

(2010) Susan Arndt et al.   OTOLOGY & NEUROTOLOGY

Keratitis, Ichthyosis, and Deafness (KID Syndrome): Review of the Literature and Proposal of a New Terminology

(2010) Hector Caceres-Rios et al.   PEDIATRIC DERMATOLOGY

Mutation ofGJB2in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation

(2009) X.-B. Zhang et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in theGJB2gene encoding connexin 26

(2009) Ingo Todt et al.   CLINICAL GENETICS

A rare connexin 26 mutation in a patient with aforme frusteof keratitis-ichthyosis-deafness (KID) syndrome

(2009) Ching Yin Neoh et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

Structure of the connexin 26 gap junction channel at 3.5 Å resolution

(2009) Shoji Maeda et al.   NATURE

Connexin 26 mutation in keratitis–ichthyosis–deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss

(2008) Brent Kelly et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

Connexin Mutations Causing Skin Disease and Deafness Increase Hemichannel Activity and Cell Death when Expressed in Xenopus Oocytes

(2008) Jack R. Lee et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Ichthyosis prematurity syndrome: A well-defined congenital ichthyosis subtype

(2008) Anette Bygum et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E

(2007) Laurence Jonard et al.   European Journal of Medical Genetics