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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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Bibliografiske detaljer
Principais autores: Ahoura Nozari, mahdieh Hassani, Javad Karimzad Hagh, Alireza Sadeghi, Narges Jalilian
Format: Artigo
Sprog:Inglês
Udgivet: Ilam University of Medical Sciences 2024-09-01
Serier:Journal of Basic Research in Medical Sciences
Fag:
Online adgang:http://jbrms.medilam.ac.ir/article-1-845-en.pdf
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