Carpenter-Waziri syndrome results from a mutation in XNP.
Abidi
F
F
Schwartz
C E
CE
Carpenter
N J
NJ
Villard
L
L
Fontés
M
M
Curtis
M
M
D000595:Amino Acid Sequence; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D013577:Syndrome; D000075924:X-linked Nuclear Protein; D017085:alpha-Thalassemia / Q000235:genetics
D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein