Rathbun syndrome (hypophosphatasia) due to the heterozygous variant c.297+5G>A in alkaline phosphatase with unusual phenotype.
10.1097/CM9.0000000000001777
- Author:
Josef FINSTERER
1
;
Claudia STÖLLBERGER
2
Author Information
1. Department of Neurology, Klinik Landstrasse, Messerli Institute, Vienna, Austria.
2. 2nd Medical Department with Cardiology and Intensive Care Medicine, Klinik Landstrasse, Vienna, Austria.
- Publication Type:Journal Article
- From:
Chinese Medical Journal
2021;135(3):377-378
- CountryChina
- Language:English
