Genet Med, 2026, 102746

Delineating the Phenotypic Spectrum of SLC26A2-related Skeletal Dysplasias in a Cohort of 115 Patients: Evidence for a Novel Complex Allele Modifying Disease Severity

SLC26A2-related skeletal dysplasias range from recessive multiple epiphyseal dysplasia (rMED) to lethal atelosteogenesis type 2, but factors underlying clinical variability are not fully defined. This study aimed to delineate genotype-phenotype correlations and identify disease modifiers in the largest cohort reported to date.

Gorodilova D, Markova T, Kenis V, Melchenko E, Filatova A, Ogorodova N, Rustamov G, Dadali E, Nagornova T, Skoblova N, Khailova O, Akinshina A, Borovikov A, Tabakov V, Tatarskiy E, Marakhonov A, Skoblov Y, Shchagina O, Kutsev S, Skoblov M

: 10.1016/j.gim.2026.102746
: 42831386
IBCH: 12786
Ссылка на статью в журнале: https://linkinghub.elsevier.com/retrieve/pii/S1098360026010646
Нет данных о цитировании
Данные статьи проверены модераторами 2026-10-11