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Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia

Achondroplasia (ACH) is a hereditary disorder of dwarfism that is caused by the aberrant proliferation and differentiation of chondrocyte growth plates. The common findings of macrocephaly and facial anomalies accompany dwarfism in these patients. Fibroblast growth factor receptor 3 ( FGFR3 ) gene m...

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Detalles Bibliográficos
Autores principales:	Ergoren, Mahmut C., Eren, Erdal, Manara, Elena, Paolacci, Stefano, Tulay, Pinar, Sag, Sebnem O., Bertelli, Matteo, Mocan, Gamze, Temel, Sehime Gulsun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Georg Thieme Verlag KG 2021
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8378917/ https://www.ncbi.nlm.nih.gov/pubmed/34430961 http://dx.doi.org/10.1055/s-0041-1725070

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