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Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.
Am J Med Genet A. 2024 Sep;194(9):e63645. doi: 10.1002/ajmg.a.63645. Epub 2024 May 6.
Am J Med Genet A. 2024.
PMID: 38709052
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.
Dursun A, Yalnizoglu D, Yilmaz DY, Oguz KK, Gülbakan B, Koşukcu C, Akar HT, Kahraman AB, Acar NV, Günbey C, Yildiz Y, Ozgul RK.
Dursun A, et al. Among authors: acar nv.
Eur J Med Genet. 2021 Nov;64(11):104340. doi: 10.1016/j.ejmg.2021.104340. Epub 2021 Sep 9.
Eur J Med Genet. 2021.
PMID: 34509675
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