Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins-Reference-Cited by-同舟云学术

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins

Published:2017-06-20 Issue:9 Volume:173 Page:2451-2455
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Jehee Fernanda S.¹,de Oliveira Valdirene T.¹,Gurgel-Giannetti Juliana²,Pietra Rafaella X.¹,Rubatino Fernando V. M.¹,Carobin Natália V.¹,Vianna Gabrielle S.¹,de Freitas Mariana L.¹,Fernandes Karla S.¹,Ribeiro Beatriz S. V.²,Brüggenwirth Hennie T.³,Ali-Amin Roza³,White Janson J.⁴,Akdemir Zeynep C.⁴,Jhangiani Shalini N.⁵,Gibbs Richard A.⁴⁵,Lupski James R.⁴⁵⁶⁷,Varela Monica C.⁸,Koiffmann Célia⁸,Rosenberg Carla⁸,Carvalho Cláudia M. B.⁴^ORCID,

Affiliation:

1. Instituto de Ensino e Pesquisa Santa Casa de Belo Horizonte; Belo Horizonte Minas Gerais Brazil

2. Faculdade de Medicina da Universidade Federal de Minas Gerais; Belo Horizonte Minas Gerais Brazil

3. Department of Clinical Genetics; Erasmus University Medical Center; Rotterdam The Netherlands

4. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

5. Human Genome Sequencing Center; Baylor College of Medicine; Houston Texas

6. Texas Children's Hospital; Houston Texas

7. Department of Pediatrics; Baylor College of Medicine; Houston Texas

8. Department of Genetics and Evolutionary Biology, Institute of Biosciences; University of São Paulo; São Paulo Brazil

Funder

National Human Genome Research Institute-National Heart Lung and Blood Institute

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Smith-Magenis Syndrome Research Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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2. When one diagnosis is not enough;Boycott;The New England Journal of Medicine,2017

3. Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q;Calounova;American Journal of Medical Genetics Part A,2008

4. Prader-Willi syndrome;Cassidy;Genetics in Medicine,2012

5. Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome;de Pontual;Human Mutation,2009

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