Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.
Institute of Human Genetics, University of Cologne, Cologne, Germany.
I
I
Ebermann
S M
SM
Elsayed
T Y
TY
Abdel-Ghaffar
G
G
Nürnberg
P
P
Nürnberg
E
E
Elsobky
H J
HJ
Bolz
D002648:Child; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000235:genetics / Q000503:physiopathology; D008297:Male; D009154:Mutation; D062556:NAV1.7 Voltage-Gated Sodium Channel; D000699:Pain Insensitivity, Congenital / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D015222:Sodium Channels / Q000235:genetics*; D013577:Syndrome
D062556:NAV1.7 Voltage-Gated Sodium Channel; C486866:SCN9A protein, human; D015222:Sodium Channels