Open AccessRathbun syndrome (hypophosphatasia) due to the heterozygous variant c.297+5G>A in alkaline phosphatase with unusual phenotype
Author(s) -
Josef Finsterer,
Claudia Stöllberger
Publication year - 2021
Publication title -
chinese medical journal/chinese medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 63
eISSN - 2542-5641
pISSN - 0366-6999
DOI - 10.1097/cm9.0000000000001777
Subject(s) - medicine , hypophosphatasia , endocrinology , gastroenterology , pediatrics , alkaline phosphatase , biochemistry , chemistry , enzyme