Associated Papers
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.
Nishadham V et al.
Journal of Neuromuscular Diseases, 2024
Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.
Hyun YS et al.
Annals of Human Genetics, 2015
A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.
Boubaker C et al.
Annals of Human Genetics, 2013
Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).
Baudot C et al.
Journal of the Peripheral Nervous System : Jpns, 2012
Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.
Delague V et al.
American Journal of Human Genetics, 2007
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