Associated Papers
Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China.
Lian R et al.
Orphanet Journal of Rare Diseases, 2024
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
Tenorio-Castano J et al.
Clinical Genetics, 2023
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.
Fukushi D et al.
Gene, 2018
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Gibson KM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities.
Zech M et al.
Case Reports in Genetics, 2017
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
Nesbitt A et al.
American Journal of Medical Genetics. Part A, 2015
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