Publication | Open Access

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

Fryns SyndromeAllelic VariantDevelopmental BiologyGenetic DisorderGeneticsPathogenesisLa Réunion IslandMolecular GeneticsDisease Gene IdentificationFounder EffectMedicineGenetic BasisClinical Genetics