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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.
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| 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 |