Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A-Reference-Cited by-同舟云学术

Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A

Published:2020-01-05 Issue:4 Volume:182 Page:681-688
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Medina Cristina T. N.¹²,Sandoval Renata³,Oliveira Gabriela¹,Costa Silveira Karina⁴,Cavalcanti Denise P.⁴^ORCID,Pogue Robert¹^ORCID

Affiliation:

1. Post‐Graduate Program in Genomic Sciences and BiotechnologyUniversidade Católica de Brasília Brasília Brazil

2. Secretariat of HealthGoverno do Distrito Federal Brasilia Brazil

3. Sírio‐Libanês Hospital, Asa Sul Brasília Brazil

4. Skeletal Dysplasia Group, Departamento de Genética MédicaFaculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP) Campinas Brazil

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Fundação de Amparo à Pesquisa do Estado de São Paulo

Fundação de Apoio à Pesquisa do Distrito Federal

Fundo de Apoio ao Ensino, à Pesquisa e Extensão, Universidade Estadual de Campinas

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61460

Reference17 articles.

1. Splicing mutations in human genetic disorders: examples, detection, and confirmation

2. Achondrogenesis Type IA (Houston-Harris): A Still-Unresolved Molecular Phenotype

3. Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

4. Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity

5. Achondrogenesis type I: Delineation of further heterogeneity and identification of two distinct subgroups

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