RSK2mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family-Reference-Cited by-同舟云学术

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RSK2mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family

Published:2013-03-17 Issue:1 Volume:85 Page:96-99
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Maystadt I,Destree A,Benoit V¹,Aeby A²,Lederer D,Moortgat S,Jurkiewicz D³,Krajewska-Walasek M³,Hanauer A⁴,Thomas GM⁵

Affiliation:

1. Département de Biologie Moléculaire; Institut de Pathologie et de Génétique; Gosselies Belgium

2. Département de Neurologie Pédiatrique; Université Libre de Bruxelles-Hôpital Erasme; Brussels Belgium

3. Department of Medical Genetics; The Children's Memorial Health Institute; Warszaw Poland

4. Translational Medicine & Neurogenetics; IGBMC; Illkirch France

5. Shriners Hospital Pediatric Research Center; Temple University Medical School; Philadelphia PA USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference8 articles.

1. Coffin-Lowry syndrome: clinical and molecular features;Hanauer;J Med Genet,2002

2. Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome;Delaunoy;Hum Mutat,2001

3. Four novel RSK2 mutations in females with Coffin-Lowry syndrome;Jurkiewicz;Eur J Med Genet,2010

4. Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome;Manouvrier-Hanu;J Med Genet,1999

5. Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome;Merienne;J Med Genet,1998

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes;Brain Sciences;2021-08-22

2. Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients;Human Mutation;2013-08-30

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