Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients-Reference-Cited by-同舟云学术

Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients

Published:2021-11-09 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Jacob Prince¹^ORCID,Bhavani Gandham Sri Lakshmi¹^ORCID,Shah Hitesh²,Galada Chelna¹,Nampoothiri Sheela³,Kamath Nutan⁴,Phadke Shubha R.⁵^ORCID,Muranjan Mamta⁶,Datar Chaitanya A.⁷,Shukla Anju¹^ORCID,Girisha Katta M.¹^ORCID

Affiliation:

1. Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal India

2. Department of Orthopaedics, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal India

3. Department of Paediatric Genetics Amrita Institute of Medical Sciences & Research Centre Kochi India

4. Department of Paediatrics, Kasturba Medical College, Mangalore Manipal Academy of Higher Education Mangalore India

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

6. Genetic Clinic KEM Hospital Mumbai India

7. Sahyadri Medical Genetics & Tissue Engineering Facility KEM Hospital Pune India

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62566

Reference25 articles.

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2. Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations;Briggs M. D.;Human Mutation,2002

3. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene;Briggs M. D.;Nature Genetics,1995

4. Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia‐multiple epiphyseal dysplasia disease spectrum;Briggs M. D.;American Journal of Human Genetics,1998

5. Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia;Cao L. H.;Genetics and Molecular Research,2011

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