Suggestions

Du même auteur

Biallelic Mutations in P4HTM Cause Syndromic Obesity

Archive ouverte | Saeed, Sadia | CCSD

International audience. We previously demonstrated that 50% of children with obesity from consanguineous families from Pakistan carry pathogenic variants in known monogenic obesity genes. Here, we have discovered a ...

Loss-of-function mutations in ADCY3 cause monogenic severe obesity

Archive ouverte | Saeed, Sadia | CCSD

International audience

Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan

Archive ouverte | Saeed, Sadia | CCSD

International audience. Monogenic forms of obesity have been identified in ≤10% of severely obese European patients. However, the overall spectrum of deleterious variants (point mutations and structural variants) re...

Chargement des enrichissements...