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

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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Bibliographic Details
Main Authors: Burcu Yeter, Ayca Dilruba Aslanger, Gözde Yeşil, Nursel H. Elçioğlu
Format: Article
Language:English
Published: Galenos Yayincilik 2022-12-01
Series:JCRPE
Subjects:
odontochondrodysplasia
trip11
skeletal dysplasia
dentinogenesis imperfecta
rare disease
Online Access:https://jcrpe.org/jvi.aspx?un=JCRPE-68077&volume=14&issue=4

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https://jcrpe.org/jvi.aspx?un=JCRPE-68077&volume=14&issue=4

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