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Article

[A novel mutation in infant hypophophatasia: a case report].

La Tunisie medicale - 1 May 2007

Halioui-Louhaïchi Sonia, Ben M'barek Samia, Ben Hariz Mongi, Ben Farhat Leila, Briki Sarra, Hendaoui Lotfi, Mornet Etienne, Maherzi Ahmed

Abstract excerpt

BACKGROUND: Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase activity. Several mutations in the TNSALP gene are identified. AIM: The authors describe a Tunisian case having a mutation that...

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PMID: 17657935

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17657935-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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