A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.

Thiele S, Werner R, Grötzinger J, Brix B, Staedt P, Struve D, Reiz B, Farida J, Hiort O.

Mol Genet Genomic Med. 2015 Mar;3(2):111-20. doi: 10.1002/mgg3.117. Epub 2014 Dec 4.


Scroll to Top