MIRAGE syndrome: a case report of de novo SAMD9 c.884del p.(Pro295GlnfsTer104) variant and a novel phenotype of pyloric stenosis

Abstract Background MIRAGE syndrome is a rare multisystem disorder characterized by myelodysplasia, infection, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy, resulting from mutations in the SAMD9 gene. This syndrome is notably rare, with fewer than 60 documented cases g...

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主要な著者:	Mohamad M. Assker, Mahdia Al Haidar, Marwan Faris, Ahmed Emara, Yousef Al Abrach, Maryam Al Shehhi
フォーマット:	Artigo
言語:	Inglês
出版事項:	SpringerOpen 2025-01-01
シリーズ:	Egyptian Journal of Medical Human Genetics
主題:	MIRAGE syndrome SAMD9 mutation Pyloric stenosis Phenotypic diversity Genetic testing Multidisciplinary management
オンライン･アクセス:	https://doi.org/10.1186/s43042-024-00630-2
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