Rathbun syndrome (hypophosphatasia) due to the heterozygous « metajournal.com

Chinese medical journal · Dec 2021

Case Reports

Rathbun syndrome (hypophosphatasia) due to the heterozygous variant c.297+5G>A in alkaline phosphatase with unusual phenotype.

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- Josef Finsterer and Claudia Stöllberger.
- Department of Neurology, Klinik Landstrasse, Messerli Institute, Vienna, Austria.
- Chin. Med. J. 2021 Dec 16; 135 (3): 377-378.
no abstract available

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