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