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Article

Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches.

Molecular genetics and genomics : MGG - 23 Jun 2024

Amri Yessine, Dabboubi Rym, Khemiri Monia, Jebabli Elham, Hadj Fredj Sondess, Ahmed Sarra Ben, Jouini Yosr, Ouali Faida, Messaoud Taieb

Abstract excerpt

Familial Hypophosphatasia presents a complex diagnostic challenge due to its wide-ranging clinical manifestations and genetic heterogeneity. This study aims to elucidate the molecular underpinnings of familial Hypophosphatasia within a Tunisian family harboring a rare c.896 T > C mutation in the ALPL gene, offering insights into genotype-phenotype correlations and potential therapeutic avenues. The study employs...

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PMID: 38909345
DOI: 10.1007/s00438-024-02157-y

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