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Two siblings with scarlike facial lesions.
Pediatr Dermatol
March 2019
Department of Pediatrics, O.L.Vrouw Hospital, Aalst, Belgium.
Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.
Clin Genet
November 2015
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Setleis syndrome is characterized by bitemporal scar-like lesions and other characteristic facial features. It results from recessive mutations that truncate critical functional domains in the basic helix-loop-helix (bHLH) transcription factor, TWIST2, which regulates expression of genes for facial development. To date, only four nonsense or small deletion mutations have been reported.
View Article and Find Full Text PDFSetleis 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.
J Med Genet
October 2011
Department of Human Genetics, National Institute of Pediatrics of Mexico, Mexico City, Mexico.
Background: The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterised by bitemporal or preauricular scar-like defects, the former resembling 'forceps marks'. Recently, different homozygous TWIST2 nonsense mutations were reported in unrelated Setleis syndrome (FFDD Type III) patients from consanguineous families, consistent with autosomal recessive inheritance. Mexican-Nahua sibs with facial and ophthalmologic features of FFDD type III were evaluated.
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