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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...
Autores principales: | Tanase-Nakao, Kanako, Kawai, Masanobu, Wada, Kazuko, Kagami, Masayo, Narumi, Satoshi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2021
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Materias: | |
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 |
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