Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic SAMD9 variant

Gain-of-function variants in SAMD9, which resides on chromosome 7, cause MIRAGE syndrome that is associated with congenital adrenal insufficiency and gonadal dysgenesis. We previously reported a Japanese patient with MIRAGE syndrome carrying a de novo heterozygous SAMD9 variant (p.Ala1479Ser). In th...

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Detalles Bibliográficos
Autores principales: Tanase-Nakao, Kanako, Kawai, Masanobu, Wada, Kazuko, Kagami, Masayo, Narumi, Satoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8481078/
https://www.ncbi.nlm.nih.gov/pubmed/34629738
http://dx.doi.org/10.1297/cpe.30.163

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8481078/
https://www.ncbi.nlm.nih.gov/pubmed/34629738
http://dx.doi.org/10.1297/cpe.30.163

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