Overview of skin diseases linked to connexin gene mutations

A novelGJA1 missense mutation in a Polish child with oculodentodigital dysplasia

(2010) A. Jamsheer et al.   JOURNAL OF APPLIED GENETICS

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

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

Connexin-26 mutations in deafness and skin disease

(2009) Jack R. Lee et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

GJA1mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

(2009) William A. Paznekas et al.   HUMAN MUTATION

Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin

(2009) Shubha Melkote et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43)

(2008) F U Musa et al.   EYE

ODDD-Linked Cx43 Mutants Reduce Endogenous Cx43 Expression and Function in Osteoblasts and Inhibit Late Stage Differentiation

(2008) Elizabeth McLachlan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A Report ofGJB2(N14K) Connexin 26 Mutation in Two Patients-A New Subtype of KID Syndrome?

(2008) Tamara Lazic et al.   PEDIATRIC DERMATOLOGY