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Article

Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.

American journal of medical genetics. Part A - 1 Aug 2013

Abdel-Salam Ghada M H, Abdel-Hamid Mohamed S, Hassan Nihal A, Issa Mahmoud Y, Effat Laila, Ismail Samira, Aglan Mona S, Zaki Maha S

Abstract excerpt

We describe five patients from three different families with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), which was molecularly confirmed by homozygosity for the g.51G >A and g.55G >A mutations in RNU4ATAC, respectively. The patients showed the classical phenotype and demonstrated in addition variable degrees of gyration abnormalities and malformations of the callosal body with an...

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PMID: 23794361
DOI: 10.1002/ajmg.a.36009

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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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