A novel mutation in a mother and a son with Aarskog-Scott syndrome
✍ Scribed by Altıncık, Ayça; Kaname, Tadashi; Demir, Korcan; Böber, Ece
- Book ID
- 120657516
- Publisher
- Walter de Gruyter GmbH & Co. KG
- Year
- 2013
- Tongue
- English
- Weight
- 405 KB
- Volume
- 26
- Category
- Article
- ISSN
- 0334-018X
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📜 SIMILAR VOLUMES
W e describe a man with Aarskog-Scott syndrome. Infertility and recurrent spontaneous abortions were the primary complaints. The andrological examination demonstrated an unusual scrotal anomaly and a defect of sperm acrosomes.
## 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