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Keywords: Founder mutation
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Journal Articles
Lamia Cherif Ben Abdallah, Youssef Lakhoua, Majdi Nagara, Karima Khiari, Sahar Elouej, Olfa Messaoud, Yosra Bouyacoub, Lilia Romdhane, Zinet Turki, Sonia Abdelhak, Nejib Ben Abdallah
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2014) 82 (5): 338–343.
Published Online: 18 September 2014
..., which is likely nondeleterious. A homozygous splice-donor site mutation (IVS14 + 1G>A) was found in the AAAS gene. This mutation, responsible for AAAS, is a founder mutation in North Africa. Conclusion: This is the first report on a Tunisian patient with the coexistence of AAAS and CHH. The diagnosis...
