XNP mutation in a large family with Juberg-Marsidi syndrome.
Villard
L
L
Gecz
J
J
Mattéi
J F
JF
Fontés
M
M
Saugier-Veber
P
P
Munnich
A
A
Lyonnet
S
S
D000483:Alleles; D001483:Base Sequence; D002874:Chromosome Mapping; D004265:DNA Helicases; D017931:DNA Primers / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics; D000075924:X-linked Nuclear Protein; D017085:alpha-Thalassemia / Q000235:genetics
D017931:DNA Primers; D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein