Skeletal dysplasias in Latin America-Reference-Cited by-同舟云学术

Skeletal dysplasias in Latin America

Published:2020-11-21 Issue:4 Volume:184 Page:986-995
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Cavalcanti Denise P.¹^ORCID,Fano Virginia²,Mellado Cecilia³^ORCID,Lacarrubba‐Flores Maria Dora J.¹,Silveira Cynthia¹,Silveira Karina C.¹,Pino Mariana²,Moresco Angelica⁴,Caino Silvia²,Ramos Mejía Rosario²,García Cristián J.⁵,Lay‐Son Guillermo³,Ferreira Carlos R.⁶^ORCID

Affiliation:

1. Skeletal Dysplasia Group, Medical Genetics Department, Medical Sciences Faculty State University of Campinas (UNICAMP) Campinas São Paulo Brazil

2. Growth and Development Department Garrahan Hospital Buenos Aires Argentina

3. Study Group of Genetic Skeletal Abnormalities, Genetic Unit, Pediatrics Division, Faculty of Medicine Pontificia Universidad Católica de Chile Santiago Chile

4. Genetic Department Garrahan Hospital Buenos Aires Argentina

5. Study Group of Genetic Skeletal Abnormalities, Department of Radiology, Faculty of Medicine Pontificia Universidad Católica de Chile Santiago Chile

6. Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Fundação de Amparo à Pesquisa do Estado de São Paulo

NIH Clinical Center

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31861

Reference38 articles.

1. Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region

2. FGFR3‐related hypochondroplasia: Longitudinal growth in 57 children with the p.Asn540Lys mutation;Arenas M. A.;Journal of Pediatric Endocrinology & Metabolism,2018

3. Clinical epidemiology of skeletal dysplasias in South America;Barbosa‐Buck C. O.;American Journal of Medical Genetics. Part A,2012

4. ECLAMC: The Latin-American Collaborative Study of Congenital Malformations

5. Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

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