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Literature DB >> 18541889

Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.

I Ebermann¹, S M Elsayed, T Y Abdel-Ghaffar, G Nürnberg, P Nürnberg, E Elsobky, H J Bolz.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2008 PMID： 18541889 DOI： 10.1212/01.wnl.0000314731.65875.5c

Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910

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5 in total

1. A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.

Authors: André Mégarbané; Rima Slim; Gudrun Nürnberg; Inga Ebermann; Peter Nürnberg; Hanno Jörn Bolz
Journal: Eur J Hum Genet Date: 2009-02-04 Impact factor: 4.246

2. Mutation of POC1B in a severe syndromic retinal ciliopathy.

Authors: Bodo B Beck; Jennifer B Phillips; Malte P Bartram; Jeremy Wegner; Michaela Thoenes; Andrea Pannes; Josephina Sampson; Raoul Heller; Heike Göbel; Friederike Koerber; Antje Neugebauer; Andrea Hedergott; Gudrun Nürnberg; Peter Nürnberg; Holger Thiele; Janine Altmüller; Mohammad R Toliat; Simon Staubach; Kym M Boycott; Enza Maria Valente; Andreas R Janecke; Tobias Eisenberger; Carsten Bergmann; Lars Tebbe; Yang Wang; Yundong Wu; Andrew M Fry; Monte Westerfield; Uwe Wolfrum; Hanno J Bolz
Journal: Hum Mutat Date: 2014-08-11 Impact factor: 4.878

Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.

1. A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.

2. Mutation of POC1B in a severe syndromic retinal ciliopathy.

3. Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis.

4. Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

5. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MPV17-NNH) revisited.