@article{731844abc69345b5a3ce559ed17cba11,
title = "Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia",
abstract = "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.",
keywords = "genetic counseling, hypophosphatasia, prenatal diagnosis",
author = "Atil Bisgin and Ibrahim Boga and Cihan Cetin and Selim Buyukkurt",
note = "Publisher Copyright: {\textcopyright} 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.",
year = "2020",
month = sep,
day = "1",
doi = "10.1002/ccr3.2962",
language = "English",
volume = "8",
pages = "1719--1721",
journal = "Clinical Case Reports",
issn = "2050-0904",
publisher = "John Wiley and Sons Ltd",
number = "9",
}