De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome-Reference-Cited by-同舟云学术

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De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

Published:2015-10-21 Issue:6 Volume:24 Page:949-953
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Langlois Sylvie,Tarailo-Graovac Maja,Sayson Bryan,Drögemöller Britt,Swenerton Anne,Ross Colin JD,Wasserman Wyeth W,van Karnebeek Clara DM

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/ejhg2015217.pdf

Reference11 articles.

1. Salonen R, Somer M, Haltia M et al: Progressive encephalopathy with edema, hysparrhythmia, and optic atrophy (PEHO syndrome). Clin Genet 1991; 39: 287–293.

2. Somer M : Diagnostic criteria and genetics of the PEHO syndrome. J Med Genet 1993; 30: 932–936.

3. Alfadhel M, Yong SL, Lillquist Y, Langlois S : Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described. J Child Neurol 2011; 26: 851–857.

4. Fujimoto S, Yokochi K, Nakano M, Wada Y : Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings. Neuropediatrics 1995; 26: 270–272.

5. Richards S, Aziz N, Bale S et alACMG Laboratory Quality Assurance Committee: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405–424.

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4. Autosomal dominant neurodevelopmental disorders associated with <italic>KIF1A</italic> gene variants in 6 pediatric patients;Journal of Zhejiang University (Medical Sciences);2023-12-01

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