A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome
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Title
A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 170, Issue 8, Pages 2103-2110
Publisher
Wiley
Online
2016-06-03
DOI
10.1002/ajmg.a.37765
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- (2013) Qing Ouyang et al. NEURON
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- Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum
- (2012) Cyril Mignot et al. BRAIN & DEVELOPMENT
- NovelSLC9A6mutations in two families with Christianson syndrome
- (2012) A Riess et al. CLINICAL GENETICS
- Next-generation sequencing demands next-generation phenotyping
- (2012) Raoul C.M. Hennekam et al. HUMAN MUTATION
- A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome
- (2011) Yumi Takahashi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction
- (2011) Petter Strømme et al. BRAIN
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- (2010) Richard J. Schroer et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
- SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome
- (2008) Gregor D. Gilfillan et al. AMERICAN JOURNAL OF HUMAN GENETICS
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