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Article

A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.

BMC medical genetics - 5 Mar 2018

Kim Yoon-Myung, Seo Go Hun, Kim Gu-Hwan, Ko Jung Min, Choi Jin-Ho, Yoo Han-Wook

Abstract excerpt

BACKGROUND: Adrenal hypoplasia is a rare congenital disorder, which can be classified into a non-syndromic form, without extra-adrenal features, and a syndromic form, with such features. Despite biochemical and molecular genetic evaluation, etiologic diagnosis cannot be performed in many patients with adrenal hypoplasia. CASE PRESENTATION: The patient in this case was a boy born at 31 weeks of gestation with a...

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Source

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Identifiers

PMID: 29506479
DOI: 10.1186/s12881-018-0546-4
PMCID: PMC5836387

Genes

SAMD9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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