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Article

Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene.

Prenatal diagnosis - 1 Sept 2003

Sawai Hideaki, Kanazawa Nozomi, Tsukahara Yuki, Koike Kazunori, Udagawa Hideo, Koyama Koji, Mornet Etienne

Abstract excerpt

OBJECTIVES: Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of tissue nonspecific alkaline phosphatase (TNSALP) activity. This disorder is caused by various mutations in the TNSALP gene. We report here hypophosphatasia in two siblings, both of them severely affected by the perinatal (lethal) type. METHODS: We diagnosed the first infant by clinical and...

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Identifiers

PMID: 12975786
DOI: 10.1002/pd.696

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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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Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene.PMID 12975786Read ↗

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