hidrotic ectodermal dysplasia type 2
MIM.129500 13q12
Etiology
Autosomal dominant hidrotic ectodermal dysplasia type 2 (ED2) can be caused by mutation in the GJB6 gene (MIM.604418), which encodes connexin-30.
References
Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaître G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA, Waksman G. Mutations in GJB6 cause hidrotic ectodermal dysplasia.Nat Genet. 2000 Oct;26(2):142-4. PMID: #11017065#
Lamartine J, Pitaval A, Soularue P, Lanneluc I, Lemaître G, Kibar Z, Rouleau GA, Waksman G. A 1.5-Mb physical map of the hidrotic ectodermal dysplasia (Clouston syndrome) gene region on human chromosome 13q11. Genomics. 2000 Jul 15;67(2):232-6. PMID: #10903849#