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Article

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

International journal of molecular sciences - 13 Aug 2022

Butler Merlin G, Hossain Waheeda A, Steinle Jacob, Gao Harry, Cox Eleina, Niu Yuxin, Quach May, Veatch Olivia J

Abstract excerpt

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 maintaining functions of extracellular matrix-related proteins, key for the development of normal neuronal and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36012355
DOI: 10.3390/ijms23169090
PMCID: PMC9408984

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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