De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.
Alvarez
Araceli
A
del Castillo
Ignacio
I
Pera
Alejandra
A
Villamar
Manuela
M
Moreno-Pelayo
Miguel A
MA
Moreno
Felipe
F
Moreno
Ramón
R
Tapia
M Cruz
MC
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000473:pathology*; D007634:Keratitis / Q000473:pathology*; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017386:Sequence Homology, Amino Acid; D013577:Syndrome
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D004247:DNA