Clinical and Molecular Genetic Characterization of a Female with Fragile X Syndrome and Two Expanded Alleles: A Case Report

Fragile X syndrome is a genetic condition causing a range of developmental problems, with males more severely affected compared to female patients. The main features include a long and narrow face, large ears, and a prominent jaw and forehead. Males develop enlarged testicles after puberty, and carr...

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Principais autores:	Ahoura Nozari, mahdieh Hassani, Javad Karimzad Hagh, Alireza Sadeghi, Narges Jalilian
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Ilam University of Medical Sciences 2024-09-01
סדרה:	Journal of Basic Research in Medical Sciences
נושאים:	fragile x syndrome fmr1 gene intellectual disability cgg repeats
גישה מקוונת:	http://jbrms.medilam.ac.ir/article-1-845-en.pdf
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!