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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Bibliografiset tiedot

Päätekijät:	Mohamad M. Assker, Mahdia Al Haidar, Marwan Faris, Ahmed Emara, Yousef Al Abrach, Maryam Al Shehhi
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	SpringerOpen 2025-01-01
Sarja:	Egyptian Journal of Medical Human Genetics
Aiheet:	MIRAGE syndrome SAMD9 mutation Pyloric stenosis Phenotypic diversity Genetic testing Multidisciplinary management
Linkit:	https://doi.org/10.1186/s43042-024-00630-2
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