AEC syndrome caused by heterozygous mutation in the SAM domain of p63 gene.
Tomková
Hana
H
Fujimoto
Wataru
W
Uchida
Takafumi
T
Macko
Jozef
J
Gaillyová
Renata
R
Bucková
Hana
H
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics*; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004200:Diseases in Twins; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020559:Monomeric GTP-Binding Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D000076106:SAM Domain and HD Domain-Containing Protein 1; D013577:Syndrome
C081876:CKAP4 protein, human; D008565:Membrane Proteins; D004247:DNA; D000076106:SAM Domain and HD Domain-Containing Protein 1; C484280:SAMHD1 protein, human; D020559:Monomeric GTP-Binding Proteins