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Abstract 146: Cleidocranial dysplasia: A rare cause of severe short stature

Background: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia due to Runx 2 mutation with 1:1,000,000 incidence, characterized by hypoplastic clavicles, delayed closure of the cranial sutures, dental abnormalities, and short stature. Aims and Objectives: We report a case...

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Detalles Bibliográficos
Autores principales: Sruthi, M Navya, Vivekanand, B, Subrahmanyam, K A V, Ramesh, Jayanthy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067839/
http://dx.doi.org/10.4103/2230-8210.342271