Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation

Esmel-Vilomara, Roger

Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation [electronic resource] - Journal of clinical research in pediatric endocrinology 03 2020 - 104-108 p. digital

Publication Type: Case Reports; Journal Article

1308-5735

10.4274/jcrpe.galenos.2019.2018.0263 doi


Alkaline Phosphatase--genetics
Humans
Hypophosphatasia--diagnosis
Infant, Newborn
Infant, Premature
Male
Mutation
Phenotype