Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients-Reference-Cited by-同舟云学术

Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients

Published:2017-11-12 Issue:1 Volume:176 Page:209-213
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Osio Deborah¹^ORCID,Rankin Julia²,Koillinen Hannele³,Reynolds Adele⁴,Van Esch Hilde⁵

Affiliation:

1. The West Midlands Regional Genetics Service; Birmingham Women's and Children's NHS Foundation Trust; Birmingham UK

2. Peninsula Clinical Genetics Service; Royal Devon and Exeter NHS Foundation Trust; Exeter UK

3. Department of Clinical Genetics; Helsinki University Central; Helsinki Finland

4. Bristol Genetics Laboratory; Southmead Hospital; Bristol UK

5. Center for Human Genetics; University Hospitals Leuven; Leuven Belgium

Funder

Welcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38499/fullpdf

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3. Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization;Brunetti-Pierri;Clinical Genetics,2007

4. Mice lacking p35, a neuronal specific activator of Cdk5, display cortical lamination defects, seizures and adult lethality;Chae;Neuron,1997

5. Cyclin-dependent kinase 5 activator p25 is generated during memory formation and is reduced at an early stage in Alzheimer's disease;Engmann;Biological Psychiatry,2011

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3. An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient;Molecular Syndromology;2018