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Diagnosis of Achondroplasia at Birth: A Case Report

Autosomal dominant mutations in fibroblast growth factor receptor 3 cause achondroplasia, the most common form of dwarfism in humans. Achondroplasia is a genetic disorder causing rhizomelic shortening of limbs. Head is often large with prominent forehead causing vaginal delivery difficult. A twenty-...

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Detalles Bibliográficos
Autores principales:	Bhusal, Suzit, Gautam, Uttara, Phuyal, Rajan, Choudhary, Robin, Manandhar, Sunil Raja, Niroula, Aliska
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Journal of the Nepal Medical Association 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654452/ https://www.ncbi.nlm.nih.gov/pubmed/32335626 http://dx.doi.org/10.31729/jnma.4846

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