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Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V. Orrico A, et al. Eur J Hum Genet. 2004 Jan;12(1):16-23. doi: 10.1038/sj.ejhg.5201081. Eur J Hum Genet. 2004. PMID: 14560308
Faciogenital dysplasia or Aarskog-Scott syndrome (AAS) is a genetically heterogeneous developmental disorder. The X-linked form of AAS has been ascribed to mutations in the FGD1 gene. However, although AAS may be considered as a relatively frequent clinical d …
Faciogenital dysplasia or Aarskog-Scott syndrome (AAS) is a genetically heterogeneous developmental disorder. The X-lin …
A novel frameshift mutation in the FGD1 gene causing Aarskog-Scott syndrome patient with hypogonadism: a case report.
Jia H, Ma T, Liu Z, Ouyang Y, Hao C. Jia H, et al. Transl Pediatr. 2021 May;10(5):1377-1385. doi: 10.21037/tp-21-26. Transl Pediatr. 2021. PMID: 34189097 Free PMC article.
Aarskog-Scott syndrome (AAS) is most commonly inherited as an X-linked recessive genetic disease caused by FGD1 mutations. ...Thus, our study shows that frameshifts disrupting the RhoGEF gene domain of FGD1 represent the most prevalent causal mutations …
Aarskog-Scott syndrome (AAS) is most commonly inherited as an X-linked recessive genetic disease caused by FGD1 …
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
Parıltay E, Hazan F, Ataman E, Demir K, Etlik Ö, Özbek E, Özkan B. Parıltay E, et al. J Pediatr Endocrinol Metab. 2016 Sep 1;29(9):1111-4. doi: 10.1515/jpem-2015-0482. J Pediatr Endocrinol Metab. 2016. PMID: 27544718
Aarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by FGD1 mutations. ...ASS is characterized by craniofacial dysmorphism, short stature, interdigital webbing and shawl scrotum. However, there is a wide phenotypic …
Aarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by FGD1 mutations. ...ASS is c …
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.
Orrico A, Galli L, Obregon MG, de Castro Perez MF, Falciani M, Sorrentino V. Orrico A, et al. Am J Med Genet A. 2007 Jan 1;143A(1):58-63. doi: 10.1002/ajmg.a.31562. Am J Med Genet A. 2007. PMID: 17152066
Aarskog-Scott syndrome (AAS) is a rare, clinically and genetically heterogeneous condition characterized by facial dysmorphic features, short stature, brachydactyly, and genital anomalies. ...This previously unreported combination of anomalies might be due to …
Aarskog-Scott syndrome (AAS) is a rare, clinically and genetically heterogeneous condition characterized by facial dysm …
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).
Orrico A, Galli L, Falciani M, Bracci M, Cavaliere ML, Rinaldi MM, Musacchio A, Sorrentino V. Orrico A, et al. FEBS Lett. 2000 Aug 4;478(3):216-20. doi: 10.1016/s0014-5793(00)01857-3. FEBS Lett. 2000. PMID: 10930571
Aarskog-Scott Syndrome (AAS) is an X-linked disorder characterised by short stature and multiple facial, limb and genital abnormalities. A gene, FGD1, altered in a patient with AAS phenotype, has been identified and found to encode a protein with homol …
Aarskog-Scott Syndrome (AAS) is an X-linked disorder characterised by short stature and multiple facial, limb and genit …