SMC1A
SMC1A is responsible for producing and maintaining the core component of the cohesin complex ring. Changes in SMC1A have been found in approximately 5% of individuals with CdLS.
Many individuals with changes in SMC1A usually display a non-classic phenotype and have fuller eyebrows, less shortening of the nasal bridge and a rounder face compared to individuals with changes in NIPBL.
order Titel Delete order Titel Delete order Titel Delete # Titel Delete 1 SMC1A 2 CoDeLaGe: De SMC1A studie 3 Phenotypic Analysis of Patients with SMC1A Mutations and Epilepsy # Titel Delete # Titel Delete 1 $lineArray[1] 2 A Closer Look at SMC1A: Katie Titel Delete