Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.
Ebermann
I
I
Institute of Human Genetics, University of Cologne, Cologne, Germany.
Elsayed
S M
SM
Abdel-Ghaffar
T Y
TY
Nürnberg
G
G
Nürnberg
P
P
Elsobky
E
E
Bolz
H J
HJ
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