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Article

Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.

European journal of medical genetics - 1 Jan 2000

Le Brun Keris Yann, Jouk Pierre-Simon, Saada-Sebag Géraldine, Roux Jean-Jacques, Mattei Bertrand, Bagait Laure, Paoloni-Giacobino Ariane, Grandchamp Bernard, Soufir Nadem, Lespinasse James

Abstract excerpt

We report here a three generations family with nevoid basal cell carcinoma syndrome (NBCCS) in which the diagnosis was made only after a second trimester of pregnancy ultrasonography revealing fetal cranio-cerebral malformations. A mutation was subsequently characterized in the aborted fetus, as well as in the mother, sister and grand-mother as an 18bp deletion in exon 15 of the patched homologue 1 (PTCH1) gene....

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Source

Identifiers

PMID: 18539553
DOI: 10.1016/j.ejmg.2008.04.002

Genes

PTCH1

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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