A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene.
Orphanet J Rare Dis
; 17(1): 83, 2022 02 23.
Article
in En
| MEDLINE
| ID: mdl-35197096
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pseudohypoparathyroidism
/
Chromogranins
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
Language:
En
Journal:
Orphanet J Rare Dis
Journal subject:
MEDICINA
Year:
2022
Document type:
Article
Affiliation country:
Country of publication: