Výsledky vyhledávání - "Atefeh Khoshaeen"

Akademický článek

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

Autor: Akbar Amirfiroozy, Hossein Jalali, Atefeh Khoshaeen, Mohammad Reza Mahdavi, Mahan Mahdavi

Publikováno v: Case Reports in Clinical Practice, Vol 8, Iss 6 (2024)

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,

Externí odkaz: https://doaj.org/article/3ee4494e47a8455cac6429a9d897ad7f

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Akademický článek

First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy

Autor: Hossein Jalali, Atefeh Khoshaeen, Mohammad Reza Mahdavi, Mahan Mahdavi

Publikováno v: Clinical Case Reports, Vol 10, Iss 8, Pp n/a-n/a (2022)

Abstract SQSTM1 gene encodes a protein called p62 that acts as an autophagy receptor in the degradation of protein molecules. A homozygous deletion variant that changes the frame shift in the SQSTM1 gene named c.790 Del A .T was detected in case chil

Externí odkaz: https://doaj.org/article/eb7087e0c54a40adb9bca9b4297354f0

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