... an opening in the roof of the mouth (cleft palate). Most males with Aarskog-Scott syndrome have a ... with understanding Aarskog-Scott syndrome? brachydactyly ; cell ; chromosome ; cleft palate ; clinodactyly ; cryptorchidism ; dysplasia ; embryonic ; gene ; hernia ; hypertelorism ; inguinal ; ...
MedlinePLUS
Aarskog-Scott syndrome was tentatively mapped to Xq13 on the basis of an X:8 translocation by Bawle et al. A review of the cytogenetics and the use of molecular markers in that family have resulted in revision of the breakpoints of the translocation to Xp 11.2 and 8q 11.21. Two families, including one of the two initial families with Aarskog-Scott ...
Energy Citations Database
Aarskog-Scott syndrome is a rare X-linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog-Scott syndrome in male dizygotic twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of ...
PubMed
Aarskog(-Scott) syndrome (AAS) is characterized by short stature, and facial, limb, and genital anomalies. AAS can be an X-linked condition caused by mutations in the FGD1 gene, but there is evidence that an autosomal dominant or recessive form also exists. We report on a Chinese family in whom several members have manifestations of AAS, but differ in limb ...
The Rho family of small GTP-binding proteins plays important roles in the regulation of actin cytoskeleton organization and cell growth. Activation of these GTPases involves the replacement of bound GDP with GTP, a process catalyzed by the Dbl-like guanine-nucleotide exchange factors, all of which seem to share a putative catalytic motif termed the Dbl homology (DH) domain, followed by a ...
Faciogenital dysplasia (FGDY, MIM No. 305400) is an X-linked multisystemic growth disorder characterized by disproportionate short stature, diagnostic facial and skeletal anomalies, and urogenital malformations. Past genetic, cytologic and radiation hybrid analyses mapped FGDY to a 350 kb interval within Xp11.21 flanked by markers ALAS2 and DXS323. Using positional methods to clone the locus, YAC ...
... for providing better methods of diagnosis. NIH Patient Recruitment for Rett Syndrome Clinical Trials At NIH Clinical ...
... Tourette syndrome. The Journal of Neuropsychiatry and Clinical Neurosciences. 2009;21:13. Tourette syndrome: Frequently asked questions. ...
... some people with Noonan syndrome. Symptoms References Romano AA, et al. Noonan syndrome: Clinical features, diagnosis, and ...
