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Journal of Medical Genetics May 1992
Topics: Adult; Child; Estonia; Face; Hand Deformities, Congenital; Humans; Male; Scrotum; Sex Chromosome Aberrations; Syndrome; X Chromosome
PubMed: 1583665
DOI: 10.1136/jmg.29.5.349 -
Journal of Medical Genetics Dec 1983
Topics: Abnormalities, Multiple; Child; Face; Foot Deformities, Congenital; Humans; Hypertelorism; Male; Metatarsus; Syndrome
PubMed: 6655680
DOI: 10.1136/jmg.20.6.477 -
Human Genetics Oct 1995A Taq1 polymorphism, located in intron 4 of the faciogenital dysplasia (FGD1) gene, the gene responsible for Aarskog syndrome, is described. FGD1 encodes a putative...
A Taq1 polymorphism, located in intron 4 of the faciogenital dysplasia (FGD1) gene, the gene responsible for Aarskog syndrome, is described. FGD1 encodes a putative Rho/Rac guanine nucleotide exchange factor involved in mammalian morphogenesis. The identification of an intragenic polymorphism will facilitate the accurate carrier detection of individuals at risk for Aarskog syndrome.
Topics: Abnormalities, Multiple; Base Sequence; Deoxyribonucleases, Type II Site-Specific; Facial Bones; Humans; Molecular Sequence Data; Polymerase Chain Reaction; Polymorphism, Genetic; Urogenital Abnormalities; X Chromosome
PubMed: 7557980
DOI: 10.1007/BF00191816