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Article

Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants.

American journal of medical genetics. Part A - 1 Mar 2021

Knapp Karen M, Murray Jennie, Temple I Karen, Bicknell Louise S

Abstract excerpt

Meier-Gorlin syndrome is an autosomal recessively inherited disorder of growth retardation, accompanied by microtia and patellae a/hypoplasia and characteristic facies. Pathogenic variants in genes associated with the initiation of DNA replication underlie the condition, with biallelic variants in CDT1 the most common cause. Using 10× Chromium genome sequencing, we report CDT1 variants in an adult female, with an...

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PMID: 33338304
DOI: 10.1002/ajmg.a.62016

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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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