Exploring the behavioral and cognitive phenotype of KBG syndrome-Reference-Cited by-同舟云学术

Exploring the behavioral and cognitive phenotype of KBG syndrome

Published:2019-02-21 Issue:4 Volume:18 Page:e12553
ISSN:1601-1848
Container-title:Genes, Brain and Behavior
language:en
Short-container-title:Genes, Brain and Behavior

Author:

van Dongen Linde C.M.¹²³^ORCID,Wingbermühle Ellen¹³⁴,van der Veld William M.⁵,Vermeulen Karlijn²³⁶,Bos‐Roubos Anja G.¹,Ockeloen Charlotte W.²,Kleefstra Tjitske²³,Egger Jos I.M.¹³⁷⁴

Affiliation:

1. Centre of Excellence for NeuropsychiatryVincent van Gogh Institute for Psychiatry Venray The Netherlands

2. Department of Human GeneticsRadboud University Medical Center Nijmegen The Netherlands

3. Donders Institute for Brain, Cognition and BehaviorRadboud University Nijmegen Nijmegen The Netherlands

4. Stevig Specialized and Forensic Care for People with Intellectual DisabilitiesDichterbij Oostrum The Netherlands

5. Behavioral Science InstituteRadboud University Nijmegen Nijmegen The Netherlands

6. Karakter Child and Adolescent PsychiatryUniversity Centre Nijmegen The Netherlands

7. Centre of Excellence for Korsakoff and Alcohol‐Related Cognitive DisordersVincent van Gogh Institute for Psychiatry Venray The Netherlands

Publisher

Wiley

Subject

Behavioral Neuroscience,Neurology,Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/gbb.12553

Reference25 articles.

1. The KBG syndrome—a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies;Herrmann J;Birth Defects Orig Artic Ser,1975

2. Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

3. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

4. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

5. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation ofANKRD11

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