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Article

Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect.

Science China. Life sciences - 1 Jan 2019

Meng Lanlan, Tu Chaofeng, Lu Guangxiu, Lin Ge, Tan Yueqiu

Abstract excerpt

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Topics

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Share to Abnormalities, Multiple
Share to Antigens
Share to Dwarfism
Share to Fetal Growth Retardation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Heart Defects, Congenital

Share to Microcephaly

Share to Osteochondrodysplasias

Source

Identifiers

PMID: 29961235
DOI: 10.1007/s11427-018-9329-3

Genes

PCNT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect.PMID 29961235Read ↗

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A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features.Semantic proximity Read ↗

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