Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism.
Titeux
Matthias
M
Mendonça
Vanessa
V
Décha
Audrey
A
Moreira
Elisabete
E
Magina
Sofia
S
Maia
Ana
A
Lacaze-Buzy
Laetitia
L
Mejía
José Enrique
JE
Torrão
Luís
L
Carvalho
Filipa
F
Eça-Guimarães
Júlia
J
Hovnanian
Alain
A
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