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Article

B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.

Clinical genetics - 1 Oct 2024

Gauthier Lucas W, Gossez Morgane, Malcus Christophe, Viel Sébastien, Monneret Guillaume, Bordonné Remy, Pons Linda, Cabet Sara, Delous Marion, Mazoyer Sylvie, Putoux Audrey, Edery Patrick

Abstract excerpt

Microcephalic osteodysplastic primordial dwarfism type I (MOPDI) is a very rare and severe autosomal recessive disorder characterized by marked intrauterine growth retardation, skeletal dysplasia, microcephaly and brain malformations. MOPDI is caused by biallelic mutations in RNU4ATAC, a non-coding gene involved in U12-type splicing of 1% of the introns in the genome, which are recognized by their specific...

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PMID: 38837402
DOI: 10.1111/cge.14571

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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