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Connective Tissue Disorders and Fragile X Molecular Status in Females: A Case Series and Review

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disabilities and the second most common cause after Down syndrome. FXS is an X-linked disorder due to a full mutation of the CGG triplet repeat of the FMR1 gene which codes for a protein that is crucial in synaptogenesis and...

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Detalles Bibliográficos
Autores principales:	Butler, Merlin G., Hossain, Waheeda A., Steinle, Jacob, Gao, Harry, Cox, Eleina, Niu, Yuxin, Quach, May, Veatch, Olivia J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9408984/ https://www.ncbi.nlm.nih.gov/pubmed/36012355 http://dx.doi.org/10.3390/ijms23169090

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