Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism.
Matthias
M
Titeux
Vanessa
V
Mendonça
Audrey
A
Décha
Elisabete
E
Moreira
Sofia
S
Magina
Ana
A
Maia
Laetitia
L
Lacaze-Buzy
José Enrique
JE
Mejía
Luís
L
Torrão
Filipa
F
Carvalho
Júlia
J
Eça-Guimarães
Alain
A
Hovnanian
D001483:Base Sequence; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D019066:Facies; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007634:Keratitis / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D020125:Mutation, Missense; D013577:Syndrome
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26