Abstract Introduction of a Novel Pathogenic Variant (c.1684G>A) in The SOX5 Gene Associated With Lamb–Shaffer Syndrome in a Family From North of Iran

Abstract Introduction of a Novel Pathogenic Variant (c.1684G>A) in The SOX5 Gene Associated With Lamb–Shaffer Syndrome in a Family From North of Iran

So far, different types of SOX5 variants have been reported in patients with LAMSHF syndrome, which are mainly clustered in the HMG domain. The LAMSHF syndrome has a broad variety of clinical manifestations such as developmental delay, speech delay, intellectual disability, and behavioral disturban...

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Bibliografische gegevens
Hoofdauteurs: Akbar Amirfiroozy, Hossein Jalali, Atefeh Khoshaeen, Mohammad Reza Mahdavi, Mahan Mahdavi
Formaat: Artikel
Taal:English
Gepubliceerd in: Tehran University of Medical Sciences 2024-09-01
Reeks:Case Reports in Clinical Practice
Onderwerpen:
LAMSHF syndrome
SOX5 gene
HMG-domain
Online toegang:https://crcp.tums.ac.ir/index.php/crcp/article/view/828

Internet

https://crcp.tums.ac.ir/index.php/crcp/article/view/828

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