Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report

Overview of attention for article published in BMC Pediatrics, April 2019

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According to this publication (https://t.co/98k7k8XA6s), two variants have been found in an infant: one derived from his father (known and present in databases) the other one from his mother (de novo variant).

15 Apr 2023

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Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report. https://t.co/Kyn9H3SfjY

14 Apr 2019

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