FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis-Reference-Cited by-同舟云学术

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis

Published:2017-12-18 Issue:4 Volume:27 Page:589-600
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Piard Juliette¹,Hu Jia-Hua²³,Campeau Philippe M⁴,Rzońca Sylwia⁵,Van Esch Hilde⁶,Vincent Elizabeth²,Han Mei²,Rossignol Elsa⁷,Castaneda Jennifer⁵,Chelly Jamel⁸,Skinner Cindy⁹,Kalscheuer Vera M¹⁰,Wang Ruihua²,Lemyre Emmanuelle⁴,Kosińska Joanna⁵,Stawinski Piotr⁵,Bal Jerzy⁵,Hoffman Dax A³,Schwartz Charles E⁹,Van Maldergem Lionel¹¹¹,Wang Tao²,Worley Paul F²

Affiliation:

1. Centre de Génétique Humaine and Integrative and Cognitive Neuroscience Research Unit EA481, Université de Franche-Comté, Besançon, France

2. Department of Neuroscience, Department of Pediatrics, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA

3. Program in Developmental Neuroscience, Molecular Neurophysiology and Biophysics Section, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA

4. Department of Pediatrics, University of Montreal, Montreal, QC, Canada

5. Institute of Mother and Child, Warsaw, Poland

6. Department of Human Genetics, University Hospitals Leuven, Belgium

7. Department of Neurosciences, University of Montreal, Montreal, QC, Canada

8. CNRS UMR7104, Institut de Génétique, Biologie Moléculaire et Cellulaire, Illkirch, France

9. Greenwood Genetic Center, Greenwood, SC, USA

10. Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany

11. Centre of Clinical Investigation 1431, National Institute for Health and Medical Research (INSERM), Université de Franche-Comté, Besançon, France

Funder

National Institutes of Health

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Institute of Child Health and Human Development

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/4/589/24325776/ddx426.pdf

Reference34 articles.

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2. Prevalence of intellectual disability: a meta-analysis of population-based studies;Maulik;Res. Dev. Disabil,2011

3. Splitting and lumping in the nosology of XLMR;Stevenson;Am. J. Med. Genet,2000

4. X-linked mental retardation;Ropers;Nat. Rev. Genet,2005

5. Monogenic causes of X-linked mental retardation;Chelly;Nat. Rev. Genet,2001

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