Associated Papers
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx
Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations.
Jiang Q et al.
Orphanet Journal of Rare Diseases, 2019
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
Coelho AI et al.
Molecular Genetics & Genomic Medicine, 2014
GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets.
Freson K et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
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