A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy

KOCAAĞA AYÇA , YİMENİCİOĞLU SEVGİ , BAYAV MURAT

EGYPTIAN JOURNAL OF NEUROLOGY PSYCHIATRY AND NEUROSURGERY , Volume/Issue: 59 / 1 ,Pages: 1 - 6 ,2023

0

Number of cited

http://dx.doi.org/10.1186/s41983-023-00608-8

Erişim Bağlantısı
Abstract

Özet verisi bulunmamaktadır.

  • Kapsamı

    Uluslararası

  • Type

    Hakemli

  • Index info

    Emerging Sources Citation Index (ESCI)

  • Language

    Türkçe

  • Article Type

    Vaka Takdimi

  • Keywords

    Dominant inheritance Leukodystrophy Optic atrophy WFS1 (Wolframin) gene Wolfram-like syndrome