Associated Papers
Mechanisms of Regulation of the CHRDL1 Gene by the TWIST2 and ADD1/SREBP1c Transcription Factors.
Casasnovas-Nieves JJ et al.
Genes, 2023
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.
Lee BH et al.
Journal of Medical Genetics, 2017
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.
De Maria B et al.
American Journal of Medical Genetics. Part A, 2016
Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.
Rosti RO et al.
Clinical Genetics, 2015
Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.
Lee BH et al.
Journal of Human Genetics, 2015
A novel frameshift mutation in TWIST2 gene causing Setleis syndrome.
Girisha KM et al.
Indian Journal of Pediatrics, 2014
Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.
Cervantes-Barragán DE et al.
Journal of Medical Genetics, 2011
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