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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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Dades bibliogràfiques
Publicat a:JNMA J Nepal Med Assoc
Autors principals: Bhusal, Suzit, Gautam, Uttara, Phuyal, Rajan, Choudhary, Robin, Manandhar, Sunil Raja, Niroula, Aliska
Format: Artigo
Idioma:Inglês
Publicat: Journal of the Nepal Medical Association 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7654452/
https://ncbi.nlm.nih.gov/pubmed/32335626
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.31729/jnma.4846
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