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
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author Bisgin, Atil
Boga, Ibrahim
Cetin, Cihan
Buyukkurt, Selim
author_facet Bisgin, Atil
Boga, Ibrahim
Cetin, Cihan
Buyukkurt, Selim
author_sort Bisgin, Atil
collection PubMed
description 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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spelling pubmed-74957702020-09-25 Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia Bisgin, Atil Boga, Ibrahim Cetin, Cihan Buyukkurt, Selim Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2020-06-21 /pmc/articles/PMC7495770/ /pubmed/32983484 http://dx.doi.org/10.1002/ccr3.2962 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Bisgin, Atil
Boga, Ibrahim
Cetin, Cihan
Buyukkurt, Selim
Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia
title Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia
title_full Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia
title_fullStr Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia
title_full_unstemmed Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia
title_short Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia
title_sort identification of a novel homozygous variant in the alkaline phosphate (alpl) gene associated with hypophosphatasia
topic Case Reports
url 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
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AT buyukkurtselim identificationofanovelhomozygousvariantinthealkalinephosphatealplgeneassociatedwithhypophosphatasia

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