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Keywords: Angelman syndrome
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Journal Articles

Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1

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Subject Area:
Endocrinology , Women's and Children's Health
Ahlee Kim, Masanobu Fujimoto, Vivian Hwa, Philippe Backeljauw, Andrew Dauber
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2018) 89 (3): 205–210.
https://doi.org/10.1159/000487638
Published Online: 22 March 2018
... a case of the combination of primary adrenal insufficiency, a DSD (testes with female external genitalia in a setting of a 47,XXY karyotype), and Angelman syndrome. Methods: Comprehensive genetic analyses were performed, including a single nucleotide polymorphism microarray and whole-exome sequencing...
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