Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia

Skeletal dysplasias are often well characterized, and only a minority of the cases remain unsolved after a thorough analysis of pathogenic variants in over 400 genes that are presently known to cause monogenic skeletal diseases. Here, we describe an 11-year-old Finnish girl, born to unrelated health...

Descripción completa

Detalles Bibliográficos
Autores principales: Costantini, Alice, Valta, Helena, Suomi, Anne-Maarit, Mäkitie, Outi, Taylan, Fulya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8206634/
https://www.ncbi.nlm.nih.gov/pubmed/34149817
http://dx.doi.org/10.3389/fgene.2021.680838

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8206634/
https://www.ncbi.nlm.nih.gov/pubmed/34149817
http://dx.doi.org/10.3389/fgene.2021.680838

Ejemplares similares