Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome

Title

Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome

Creator

Ebermann I; Elsayed SM; Abdel-Ghaffar TY; Nurnberg G; Nurnberg P; Elsobky E; Bolz HJ

Publisher

Neurology

Date

2008

Subject

Child; Female; Humans; Male; Mutation; Syndrome; infant; Pedigree; Homozygote; Pain Insensitivity; Sodium Channels/genetics; Congenital/diagnosis/genetics; Liver Diseases/genetics/physiopathology

Description

2008

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

URL Address

http://doi.org/10.1212/01.wnl.0000314731.65875.5c

Citation

Ebermann I; Elsayed SM; Abdel-Ghaffar TY; Nurnberg G; Nurnberg P; Elsobky E; Bolz HJ, “Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome,” Pediatric Palliative Care Library, accessed April 26, 2024, https://pedpalascnetlibrary.omeka.net/items/show/14031.