A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog–Scott syndrome)
✍ Scribed by Alfredo Orrico; Lucia Galli; Michela Falciani; Martina Bracci; Maria Luigia Cavaliere; Maria Michela Rinaldi; Andrea Musacchio; Vincenzo Sorrentino
- Book ID
- 117102131
- Publisher
- Elsevier Science
- Year
- 2000
- Tongue
- English
- Weight
- 160 KB
- Volume
- 478
- Category
- Article
- ISSN
- 0014-5793
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## Abstract The clinical diagnosis of ASS (Aarskog–Scott syndrome or Faciogenital Dysplasia) was made in seven individuals belonging to a large Arabic family, which was supported by molecular studies revealing a 2189delA mutation in exon 15 of the FDG1 gene. The affected individuals in this family
## Abstract Aarskog‐Scott syndrome (AAS) is a rare, clinically and genetically heterogeneous condition characterized by facial dysmorphic features, short stature, brachydactyly, and genital anomalies. The X‐linked form is caused by mutations of the __FGD1__ gene. Although clinical manifestations an