Truncation and microdeletion ofEVC/EVC2with missense mutation ofEFCAB7in Ellis-van Creveld syndrome-Reference-Cited by-同舟云学术

Truncation and microdeletion ofEVC/EVC2with missense mutation ofEFCAB7in Ellis-van Creveld syndrome

Published:2016-09 Issue:5 Volume:56 Page:209-216
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenital Anomalies

Author:

Nguyen Tran Quynh Nhu¹²,Saitoh Makiko¹³,Trinh Huu Tung²,Doan Nguyen Minh Thien⁴,Mizuno Yoko³,Seki Masafumi³,Sato Yusuke⁵,Ogawa Seishi⁵,Mizuguchi Masashi¹³

Affiliation:

1. Department of Developmental Medical Sciences, School of International Health, Graduate School of Medicine; The University of Tokyo; Kyoto Japan

2. Children's Hospital 2; Ho Chi Minh City Vietnam

3. Department of Pediatrics, Graduate School of Medicine; The University of Tokyo; Kyoto Japan

4. Department of General Internal Medicine; University of Medicine and Pharmacy; Ho Chi Minh City Vietnam

5. Department of Pathology and tumor Biology, Graduate School of Medicine; Kyoto University; Kyoto Japan

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference12 articles.

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2. A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy;Ben-Salem;J Mol Neurosci,2014

3. Oral manifestations in Ellis-van Creveld syndrome: report of five cases;Cahuana;Pediatr Dent,2004

4. Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling;Chen;Taiwan J Obstet Gynecol,2010

5. Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia;Digilio;Am J Med Genet,1999

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