A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia

Odontochondrodysplasia (ODCD, OMIM #184260) is a rare, non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesis imperfecta. ODCD is inherited in an autosomal recessi...

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Detalles Bibliográficos
Autores principales: Yeter, Burcu, Aslanger, Ayca Dilruba, Yeşil, Gözde, Elçioğlu, Nursel H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9724053/
https://www.ncbi.nlm.nih.gov/pubmed/34111908
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0099

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9724053/
https://www.ncbi.nlm.nih.gov/pubmed/34111908
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0099

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