Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 ultrasou...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Achondroplasia
Share to Collagen Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Fetal Diseases

Share to Germ Cells

Share to Mosaicism

Share to Mutation

Share to Radiography

Source

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15054848-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father.Semantic proximity Read ↗

Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.Semantic proximity Read ↗

Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1).Semantic proximity Read ↗

Achondrogenesis.Semantic proximity Read ↗

Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation.Semantic proximity Read ↗

Gonadal mosaicism as a rare cause of autosomal recessive inheritance.Semantic proximity Read ↗

New subtype of familial achondrogenesis type IA (Houston-Harris).Semantic proximity Read ↗

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.Semantic proximity Read ↗

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).Semantic proximity Read ↗

Recurrent Cystic Hygroma and Poor Pregnancy Outcomes in a Single Patient.Semantic proximity Read ↗

Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents.Semantic proximity Read ↗

Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.