Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family-Reference-Cited by-同舟云学术

Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family

Published:2013-07-25 Issue:9 Volume:161 Page:2358-2362
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Schönewolf-Greulich Bitten¹,Ravn Kirstine²,Hamborg-Petersen Bente³,Brøndum-Nielsen Karen¹,Tümer Zeynep²

Affiliation:

1. Genetic Counselling Clinic Kennedy Center; Copenhagen University Hospital, Rigshospitalet; Glostrup Denmark

2. Applied Human Molecular Genetics; Kennedy Center; Copenhagen University Hospital, Rigshospitalet; Glostrup Denmark

3. Department of Pediatrics; Sønderborg Sygehus; Sønderborg Denmark

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36099/fullpdf

Reference11 articles.

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3. A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features;Cyr;Am J Med Genet A,2011

4. Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias;Foldynova-Trantirkova;Hum Mutat,2012

5. Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay;Hannes;Eur J Med Genet,2010

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