Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3-Reference-Cited by-同舟云学术

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3

Published:2013-08-16 Issue:12 Volume:161 Page:3144-3149
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Hackmann Karl¹,Stadler Anja¹,Schallner Jens²,Franke Kathlen³,Gerlach Eva-Maria¹,Schrock Evelin¹,Rump Andreas¹,Fauth Christine⁴,Tinschert Sigrid¹⁴,Oexle Konrad¹

Affiliation:

1. Institut für Klinische Genetik; Medizinische Fakultät Carl Gustav Carus; Technische Universität Dresden; Dresden Germany

2. Klinik und Poliklinik für Kinder- und Jugendmedizin; Universitätsklinikum Carl Gustav Carus; Dresden Germany

3. Mitteldeutscher Praxisverbund Humangenetik; Überörtliche Gemeinschaftspraxis; Dresden Germany

4. Sektion Humangenetik; Medizinische Universität Innsbruck; Innsbruck Austria

Funder

Bundesministerium für Bildung und Forschung (BMBF) Network

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36155/fullpdf

Reference11 articles.

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3. Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24-q25 due to a terminal duplication;Kelly;Am J Med Genet,2002

4. Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis;Lukusa;Genet Couns,2010

5. Brief clinical report: Duplication of distal 17q: Report of an observation;Naccache;Am J Med Genet,1984

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