Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins-Reference-Cited by-同舟云学术

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Novel mutation in EFCAB7 alters expression and interaction of Ellis-van Creveld ciliary proteins

Published:2018-06-07 Issue:2 Volume:59 Page:49-50
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenit Anom

Author:

Nguyen Tran Quynh Nhu¹²,Doan Nguyen Minh Thien³,Trinh Huu Tung²,Mizuguchi Masashi¹³^ORCID

Affiliation:

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

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

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

Publisher

Wiley

Subject

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

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cga.12291/fullpdf

Reference5 articles.

1. Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: example of a WDR35 mutation case and review of the literature;Antony;Eur J Med Genet,2017

2. Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis;D'Asdia;Eur J Med Genet,2013

3. Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome;Nguyen;Congenit Anom,2016

4. EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia;Pusapati;Dev Cell,2014

5. Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling;Valencia;Hum Mutat,2009

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly;European Journal of Human Genetics;2023-09-08

2. Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-03

3. Hypoplastic nails and brachydactyly in a girl with moderate acne and hirsutism;Pediatric Dermatology;2021-09

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