Author:
Raha Sarbani,Kotecha Udhaya,Mistri Mehul,Shah Parth,Sharda Sheetal
Reference6 articles.
1. West, syndrome: a comprehensive review;Pavone;Neurol. Sci.,2020
2. A pathogenic UFSP2 variant in an autosomal recessive form of pediatric, neurodevelopmental anomalies and epilepsy;Ni;Genet. Med.,2021
3. UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report;Zhang;Eur., J. Med. Genet.,2020
4. Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia;Watson;South Afr., Med. J.,2015
5. A description of novel variants and review of, phenotypic spectrum in UBA5-related early epileptic encephalopathy;Briere;Mol. Case, Stud.,2021