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

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...

Full description

Saved in:
Bibliographic Details
Main Authors: Mohamad M. Assker, Mahdia Al Haidar, Marwan Faris, Ahmed Emara, Yousef Al Abrach, Maryam Al Shehhi
Format: Article
Language:English
Published: SpringerOpen 2025-01-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
MIRAGE syndrome
SAMD9 mutation
Pyloric stenosis
Phenotypic diversity
Genetic testing
Multidisciplinary management
Online Access:https://doi.org/10.1186/s43042-024-00630-2
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doi.org/10.1186/s43042-024-00630-2

Similar Items