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Article

X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings.

Prenatal diagnosis - 1 Dec 2006

Umranikar Shalini, Glanc Phyllis, Unger Sheila, Keating Sarah, Fong Katherine, Trevors Christopher D, Myles-Reid Diane, Chitayat David

Abstract excerpt

OBJECTIVE: To report our experience of the prenatal diagnosis of X-linked dominant chondrodysplasia punctata (CDPX2) and highlight its variable phenotypic presentation. METHODS: We report the sonographic features of three female fetuses affected with CDPX2. The ultrasound, radiographic and pathological findings were compared. RESULTS: Family 1: Two affected pregnancies, both terminated. Fetus 1: Presented with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17086568
DOI: 10.1002/pd.1594

Genes

EBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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