Associated Papers
SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia.
Del Viso F et al.
American Journal of Medical Genetics. Part A, 2025
Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene.
Zhang Y et al.
Molecular Genetics & Genomic Medicine, 2023
Haploinsufficiency of SF3B2 causes craniofacial microsomia.
Timberlake AT et al.
Nature Communications, 2021
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