Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
N
N
Ronce
I
I
Maystadt
C
C
Hubert
S
S
Vonwill
K
K
Devriendt
M-P
MP
Moizard
M
M
Raynaud
D001483:Base Sequence; D004392:Dwarfism / Q000235:genetics* / Q000473:pathology; D005091:Exons; D005145:Face / Q000002:abnormalities / Q000473:pathology; D020440:Gene Duplication; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology; D005837:Genitalia, Male / Q000002:abnormalities / Q000473:pathology; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
C490796:FGD1 protein, human; D020662:Guanine Nucleotide Exchange Factors