Associated Papers
Genetics of Cerebral Palsy: Diagnosis, Differential Diagnosis, and Beyond.
Jang DH et al.
Annals of Rehabilitation Medicine, 2024
Diagnostic Yield of Trio Whole-Genome Sequencing in Children with Undiagnosed Developmental Delay or Congenital Anomaly: A Prospective Cohort Study.
Kim J et al.
Diagnostics (basel, Switzerland), 2024
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
Amlie-Wolf L et al.
American Journal of Medical Genetics. Part A, 2022
The Added Value of Whole-Exome Sequencing for Anomalous Fetuses With Detailed Prenatal Ultrasound and Postnatal Phenotype.
He M et al.
Frontiers in Genetics, 2021
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Chassaing N et al.
Clinical Genetics, 2014
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
Schneider A et al.
American Journal of Medical Genetics. Part A, 2009
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.
Zhou J et al.
Molecular Vision, 2008
Select a paper to view details