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Article

Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome.

Brain & development - 1 Feb 2021

Hagiwara Hidetoshi, Matsumoto Hiroshi, Uematsu Kenji, Zaha Kiyotaka, Sekinaka Yujin, Miyake Noriko, Matsumoto Naomichi, Nonoyama Shigeaki

Abstract excerpt

BACKGROUND: Microcephalic osteodysplastic primordial dwarfism type I (MOPD I, also known as Taybi-Linder syndrome) is a rare genetic disorder associated with severe intrauterine growth retardation, short stature, microcephaly, brain anomalies, stunted limbs, and early mortality. RNU4ATAC, the gene responsible for this disorder, does not encode a protein but instead the U4atac small nuclear RNA (snRNA), a crucial...

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Identifiers

PMID: 33059947
DOI: 10.1016/j.braindev.2020.09.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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