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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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Detalles Bibliográficos
Publicado en:Clin Case Rep
Autores principales: Bisgin, Atil, Boga, Ibrahim, Cetin, Cihan, Buyukkurt, Selim
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea: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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