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Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia

The lack of awareness of patient risk factors, failure to obtain adequate family history, was discussed by clinical experience in prenatal testing of hypophosphatasia with a novel variant in the ALPL gene identified in the index case of the family.

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Publicado no:Clin Case Rep
Main Authors: Bisgin, Atil, Boga, Ibrahim, Cetin, Cihan, Buyukkurt, Selim
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7495770/
https://ncbi.nlm.nih.gov/pubmed/32983484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.2962
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