A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation.
Jamsheer
A
A
Badura-Stronka
M
M
Sowińska
A
A
Debicki
S
S
Kiryluk
K
K
Latos-Bieleńska
A
A
D000293:Adolescent; D018031:Connexin 43 / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D014071:Tooth Abnormalities / Q000235:genetics*
D018031:Connexin 43; C500216:GJA1 protein, human