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Article

Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia.

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi - 1 Feb 2007

Watanabe Atsushi, Yamamasu Seiichi, Shinagawa Toshiya, Suzuki Yumi, Miyake Hidehiko, Takeshita Toshiyuki, Orimo Hideo, Shimada Takashi

Abstract excerpt

Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency in tissue-nonspecific alkaline phosphatase (TNSALP) activity. This disorder is caused by various mutations of the TNSALP gene. We report here the prenatal diagnosis of the perinatal (lethal) type of hypophosphatasia in a sibling of an affected infant. The infant had been found to have hypophosphatasia on the...

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Identifiers

PMID: 17384481
DOI: 10.1272/jnms.74.65

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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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