Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations-Reference-Cited by-同舟云学术

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations

Published:2017-01-27 Issue:3 Volume:173 Page:588-595
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Salian Smrithi¹,Cho Tae-Joon²,Phadke Shubha R.³,Gowrishankar Kalpana⁴,Bhavani Gandham SriLakshmi¹,Shukla Anju¹,Jagadeesh Sujatha⁵,Kim Ok-Hwa⁶,Nishimura Gen⁷,Girisha Katta M.¹

Affiliation:

1. Department of Medical Genetics, Kasturba Medical College; Manipal University; Manipal India

2. Division of Pediatric Orthopedics; Seoul National University Children's Hospital; Seoul Korea

3. Department of Medical Genetics; Sanjay Gandhi Postgraduate Institute of Medical Sciences; Lucknow India

4. Department of Medical Genetics; Apollo Children's Hospital; Chennai Tamilnadu India

5. Mediscan Systems; Chennai India

6. Department of Radiology; Woorisoa Children's Hospital; Seoul Korea

7. Department of Pediatric Imaging; Tokyo Metropolitan Children's Medical Center; Tokyo Japan

Funder

Department of Science and Technology, Government of Kerala

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference19 articles.

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2. Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve-Melchior-Clausen locus;Alshammari;J Med Genet,2012

3. Dyggve-Melchior-Clausen syndrome: Report of seven patients with the Smith-McCort variant and review of the literature;Burns;J Pediatr Orthop,2003

4. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene;Cohn;Am J Hum Genet,2003

5. Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development;Denais;Hum Mutat,2011

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