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

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Bibliographic Details
Title: MIRAGE syndrome: a case report of de novo SAMD9 c.884del p.(Pro295GlnfsTer104) variant and a novel phenotype of pyloric stenosis.
Authors: Assker, Mohamad M.1 (AUTHOR) Alfapet2@hotmail.com, Al Haidar, Mahdia2 (AUTHOR), Faris, Marwan3 (AUTHOR), Emara, Ahmed3 (AUTHOR), Al Abrach, Yousef4 (AUTHOR), Al Shehhi, Maryam5 (AUTHOR)
Source: Egyptian Journal of Medical Human Genetics. 1/3/2025, Vol. 26 Issue 1, p1-6. 6p.
Database: Academic Search Ultimate
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ISSN:11108630
DOI:10.1186/s43042-024-00630-2