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Article

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.

American journal of medical genetics. Part A - 1 Jun 2012

Abdel-Salam Ghada M H, Abdel-Hamid Mohamed S, Issa Mahmoud, Magdy Ahmed, El-Kotoury Ahmed, Amr Khalda

Abstract excerpt

Mutations in the RNU4ATAC gene cause microcephalic osteodysplastic primordial dwarfism type I. It encodes U4atac, a small nuclear RNA that is a component of the minor spliceosome. Six distinct mutations in 30 patients diagnosed as microcephalic osteodysplastic primordial dwarfism type I have been described. We report on three additional patients from two unrelated families presenting with a milder phenotype of...

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Source

Identifiers

PMID: 22581640
DOI: 10.1002/ajmg.a.35356

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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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