Associated Papers
Mechanisms of Regulation of the CHRDL1 Gene by the TWIST2 and ADD1/SREBP1c Transcription Factors.
Casasnovas-Nieves JJ et al.
Genes, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM
Ocular adnexal phenotype and management of a patient with mosaic expression of a mutation in TWIST2.
De Niear MA et al.
Orbit (amsterdam, Netherlands), 2022
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 2019
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.
Lee BH et al.
Journal of Medical Genetics, 2017
Barber-say syndrome: a confirmed case of TWIST2 gene mutation.
Yohannan MD et al.
Clinical Case Reports, 2017
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
Kim S et al.
Human Molecular Genetics, 2017
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.
De Maria B et al.
American Journal of Medical Genetics. Part A, 2016
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Marchegiani S et al.
American Journal of Human Genetics, 2015
Zellweger syndrome: first reported case in Thailand and literature review.
Jaruratanasirikul S et al.
The Southeast Asian Journal of Tropical Medicine and Public Health, 1995
Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber-Say syndrome.
Giacaman A et al.
Pediatric Dermatology, 0
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