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.

Detalles Bibliográficos
Autores principales: Bisgin, Atil, Boga, Ibrahim, Cetin, Cihan, Buyukkurt, Selim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7495770/
https://www.ncbi.nlm.nih.gov/pubmed/32983484
http://dx.doi.org/10.1002/ccr3.2962
Descripción
Sumario: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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