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Article

Phenotypic variability in Micro syndrome: report of new cases.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2007

Abdel-Salam G M H, Hassan N A, Kayed H F, Aligianis I A

Abstract excerpt

The authors describe seven Egyptian patients (5 males and two females) with microcephaly, mild microphthalmia, microcornea, congenital cataracts and hypogenitalism (only in males). These features (after excluding possible non-genetic causes) are consistent with the diagnosis of Micro syndrome. Clinical, neurological, ophthalmologic examinations and brain imaging and electrophysiological studies were performed in...

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Identifiers

PMID: 18286824

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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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Phenotypic variability in Micro syndrome: report of new cases.PMID 18286824Read ↗

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From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients.Semantic proximity Read ↗

Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?Semantic proximity Read ↗

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RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.Semantic proximity Read ↗

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