Autosomal Recessive Primary Microcephaly (MCPH): An Update-Reference-Cited by-同舟云学术

Autosomal Recessive Primary Microcephaly (MCPH): An Update

Published:2017-04-11 Issue:03 Volume:48 Page:135-142
ISSN:0174-304X
Container-title:Neuropediatrics
language:en
Short-container-title:Neuropediatrics

Author:

Morris-Rosendahl Deborah¹²,Kaindl Angela³⁴⁵⁶,Zaqout Sami³⁴⁵⁶

Affiliation:

1. Clinical Genetics and Genomics, Royal Brompton & Harefield NHS Foundation Trust, London, United Kingdom

2. National Heart and Lung Institute, Imperial College London, London, United Kingdom

3. Institute of Cell Biology and Neurobiology, Charité – Universitätsmedizin Berlin, Campus Mitte, Berlin, Germany

4. Center for Chronically Sick Children (Sozialpädiatrisches Zentrum), Charité – Universitätsmedizin Berlin, Berlin, Germany

5. Berlin Institute of Health, Berlin, Germany

6. Department of Pediatric Neurology, Charité – Universitätsmedizin Berlin, Campus Virchow-Klinikum, Berlin, Germany

Abstract

AbstractAutosomal recessive primary microcephaly (MCPH; MicroCephaly Primary Hereditary) is a genetically heterogeneous neurodevelopmental disorder characterized by a significantly reduced head circumference present already at birth and intellectual disability. Inconsistent features include hyperactivity, an expressive speech disorder, and epilepsy. Here, we provide a brief overview on this rare disorder pertinent for clinicians.

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0037-1601448.pdf

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