Compound heterozygous mutations in theIFT140gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy-Reference-Cited by-同舟云学术

Compound heterozygous mutations in theIFT140gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy

Published:2017-02-16 Issue:4 Volume:91 Page:640-646
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Peña-Padilla C.¹,Marshall C.R.²³,Walker S.²,Scherer S.W.²⁴,Tavares-Macías G.⁵,Razo-Jiménez G.⁵,Bobadilla-Morales L.¹⁶,Acosta-Fernández E.¹,Corona-Rivera A.¹⁶,Mendoza-Londono R.⁷,Corona-Rivera J. R.¹⁶

Affiliation:

1. Center for Registry and Research on Congenital Anomalies (CRIAC), Division of Pediatrics, Service of Genetics and Cytogenetic Unit; “Dr. Juan I. Menchaca” Civil Hospital of Guadalajara; Guadalajara Mexico

2. The Centre for Applied Genomics, Genetics and Genome Biology; Toronto Canada

3. Genome Diagnostics, Department of Paediatric Laboratory Medicine; The Hospital for Sick Children; Toronto Canada

4. Department of Molecular Genetics and the McLaughlin Centre; University of Toronto; Toronto Canada

5. Service of Pathology; “Dr. Juan I. Menchaca” Civil Hospital of Guadalajara; Guadalajara Mexico

6. “Dr. Enrique Corona-Rivera” Institute of Human Genetics, Department of Molecular Biology and Genomics, Health Sciences University Centre; University of Guadalajara; Guadalajara Mexico

7. Division of Clinical and Metabolic Genetics, Department of Paediatrics; The Hospital for Sick Children and University of Toronto; Toronto Canada

Funder

PROINPEP Program of the University of Guadalajara

CONACYT-Mexico

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12924/fullpdf

Reference31 articles.

1. The C syndrome of multiple congenital anomalies;Opitz;Birth Defects Orig Artic Ser,1969