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Article

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.

Prenatal diagnosis - 1 Nov 2008

Simon-Bouy Brigitte, Taillandier Agnès, Fauvert Delphine, Brun-Heath Isabelle, Serre Jean-Louis, Armengod Carmen G, Bialer Martin G, Mathieu Michèle, Cousin Jacques, Chitayat David, Liebelt Jan, Feldman Barbara, Gérard-Blanluet Marion, Körtge-Jung Stefani, King Cath, Laivuori Hannele, Le Merrer Martine, Mehta Sarju, Jern Christina, Sharif Saba, Prieur Fabienne, Gillessen-Kaesbach Gabriele, Zankl Andreas, Mornet Etienne

Abstract excerpt

OBJECTIVE: We studied hypophosphatasia (HP) mutations in 19 cases prenatally detected by ultrasonography without familial history of HP. We correlated the mutations with the reported ultrasound signs, and discussed genetic counseling with regard to the particular dominantly inherited prenatal ben...

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PMID: 18925618
DOI: 10.1002/pd.2088

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18925618-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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