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Article

Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.

American journal of medical genetics. Part A - 30 Apr 2004

Faivre Laurence, Le Merrer Martine, Douvier Serges, Laurent Nicole, Thauvin-Robinet Christel, Rousseau Thierry, Vereecke Inge, Sagot Paul, Delezoide Anne-Lise, Coucke Paul, Mortier Geert

Abstract excerpt

Achondrogenesis type II is a lethal skeletal dysplasia caused by new dominant mutations within the type II collagen gene (COL2A1). Here we report on two pregnancies of a healthy, nonconsanguineous young couple. In the first pregnancy, severe micromelia and generalized edema were noted on ultrasound at 21 weeks' gestation. Clinical, radiological, and histological evaluation of the fetus after termination of the...

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Identifiers

PMID: 15054848
DOI: 10.1002/ajmg.a.20597

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.PMID 15054848Read ↗

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