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Article

Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II.

Genes & genomics - 1 Feb 2021

Nguyen Thu Hien, Nguyen Ngoc-Lan, Vu Chi Dung, Ngoc Can Thi Bich, Nguyen Ngoc Khanh, Nguyen Huy Hoang

Abstract excerpt

BACKGROUND: Primordial dwarfism (PD) is a group of genetically heterogeneous disorders related to developmental disabilities occurring in the uterus and prolongs during all stages of life, resulting in short stature, facial deformities and abnormal brain. OBJECTIVE: To determine the exact cause of the disease in two Vietnamese patients priory diagnosed with PD by severe pre-and postnatal growth retardation with...

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PMID: 33460028
DOI: 10.1007/s13258-020-01032-5

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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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