Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review-Reference-Cited by-同舟云学术

Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review

Published:2017-11-21 Issue:10 Volume:176 Page:2104-2120
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Homans Jelle F.¹^ORCID,Tromp Isabel N.¹,Colo Dino¹,Schlösser Tom P. C.¹,Kruyt Moyo C.¹,Deeney Vincent F. X.²,Crowley Terrence B.³,McDonald-McGinn Donna M.³⁴,Castelein René M.¹

Affiliation:

1. Department of Orthopaedic Surgery; University Medical Center Utrecht; Utrecht The Netherlands

2. Department of Orthopaedic Surgery; The Children's Hospital of Philadelphia (CHOP) and The Perelman School of Medicine at the University of Pennsylvania; Philadelphia Pennsylvania

3. Division of Human Genetics and 22q and You Center; The Children's Hospital of Philadelphia (CHOP); Philadelphia Pennsylvania

4. The Perelman School of Medicine at the University of Pennsylvania; Philadelphia Pennsylvania

Funder

K2M Research grant

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38545/fullpdf

Reference95 articles.

1. Manifestaciones clinicas y variabilidad inmunologica en nueve pacientes con sindrome de DiGeorge;Aglony;Revista Medica De Chile,2004

2. Further delineation of the Van den Ende-Gupta syndrome;Ali;American Journal of Medical Genetics Part A,2010

3. Craniofacial morphology in the velo-cardio-facial syndrome;Arvystas;Journal of Craniofacial Genetics and Developmental Biology,1984

4. Clinical features of 78 adults with 22q11 deletion syndrome;Bassett;American Journal of Medical Genetics Part A,2005

5. Practical guidelines for managing patients with 22q11.2 deletion syndrome;Bassett;The Journal of Pediatrics,2011

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