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Article

Prenatal detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome.

Clinical genetics - 1 Jun 2018

Shen W, Young B A, Bosworth M, Wright K E, Lamb A N, Ji Y

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Topics

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 2
Share to Fetus
Share to Malignant Hyperthermia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Prenatal Diagnosis

Share to Receptors, Cholinergic

Share to Skin Abnormalities

Share to Uniparental Disomy

Source

Identifiers

PMID: 29399782
DOI: 10.1111/cge.13164

Genes

CHRND

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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