Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

Authors:	Cristina T. N. Medina Renata Sandoval Gabriela Oliveira Karina da Costa Silveira Denise P. Cavalcanti Robert Pogue

Affiliation:	1. Post‐Graduate Program in Genomic Sciences and Biotechnology, Universidade Católica de Brasília, Brasília, Brazil;2. Secretariat of Health, Governo do Distrito Federal, Brasilia, Brazil;3. Sírio‐Libanês Hospital, Asa Sul, Brasília, Brazil;4. Skeletal Dysplasia Group, Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil;5. https://orcid.org/0000-0001-6617-4730;6. Robert Pogue, Post‐Graduate Program in Genomic Sciences and Biotechnology, Universidade Católica de Brasília, Brasília‐DF, 70790‐160, Brazil.;7. Denise P. Cavalcanti, Skeletal Dysplasia Group, DGMMG‐FCM‐UNICAMP. R. Tessália V. de Camargo, 126, Campinas‐SP, 13083‐887, Brazil.;8. https://orcid.org/0000-0002-8789-3512

Abstract:

Keywords:	TRIP11 odontochondrodysplasia achondrogenesis 1A splicing variant phenotypic spectrum