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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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| Publicat a: | Clin Case Rep |
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| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2020
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| Matèries: | |
| Accés en línia: | 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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