Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country-Reference-Cited by-同舟云学术

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country

Published:2014-07-14 Issue:9 Volume:164 Page:2317-2323
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Nampoothiri Sheela¹,Yesodharan Dhanya¹,Sainulabdin Gazel¹,Narayanan Dhanyalakshmi¹,Padmanabhan Laxmi²,Girisha Katta Mohan³^ORCID,Cathey Sara S.⁴,De Paepe Anne⁵,Malfait Fransiska⁵,Syx Delfien⁵,Hennekam Raoul C.⁶,Bonafe Luisa⁷,Unger Sheila⁷,Superti-Furga Andrea⁷

Affiliation:

1. Department of Pediatric Genetics; Amrita Institute of Medical Sciences and Research Center; Cochin Kerala India

2. Department of Perinatology; Amrita Institute of Medical Sciences and Research Center; Cochin Kerala India

3. Department of Medical Genetics; Kasturba Medical College; Manipal University; Manipal India

4. Greenwood Genetic Center; North Charleston South Carolina, USA

5. Center for Medical Genetics; Ghent University Hospital; Ghent Belgium

6. Department of Pediatrics; Academic Medical Center; University of Amsterdam; Amsterdam The Netherlands

7. Departments of Pediatrics and Genetics; University of Lausanne; Lausanne Switzerland

Funder

Swiss National Foundation

Leenaards Foundation

FBM/UniL, Lausanne, Switzerland

Fund for Scientific Research (FWO), Flanders, Belgium

Methusalem

Ghent University

Indian Council of Medical Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36668/fullpdf

Reference38 articles.

1. Incidence of inborn errors of metabolism in British Columbia, 1969-1996;Applegarth;Pediatrics,2000

2. Cumulative incidence rates of the mucopolysaccharidoses in Germany;Baehner;J Inherit Metab Dis,2005

3. Clinical epidemiology of skeletal dysplasias in South America;Barbosa-Buck;Am J Med Genet Part A,2012

4. Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism;Coelho;Eur J Pediatr,1997

5. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family;Dai;J Med Genet,2010

Cited by 18 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. Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre;Orphanet Journal of Rare Diseases;2024-08-13

2. Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey;American Journal of Medical Genetics Part A;2022-11-17

3. Utility of next-generation sequencing in genetic testing and counseling of disorders involving the musculoskeletal system—trends observed from a single genetic unit;Journal of Orthopaedic Surgery and Research;2022-02-05

4. Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type;Journal of Pediatric Genetics;2022-01-06

5. Evaluating the Utility of Next Generation Sequencing Technology in the Diagnosis and Prevention of Genetic Disorders in India, the Early Experiences;Journal of Fetal Medicine;2019-06