Literature DB >> 1342863

Setleis (bitemporal 'forceps marks') syndrome in a German family: evidence for autosomal dominant inheritance.

A Artlich1, E Schwinger, P Meinecke.   

Abstract

The Setleis syndrome is a rare disorder characterized by predominantly facial findings, including bitemporal skin changes resembling forceps marks. Autosomal recessive inheritance of this distinct condition has been proposed. We report on a typically affected German boy whose father shows a much milder expression, thus suggesting autosomal dominant inheritance.

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Year:  1992        PMID: 1342863

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  2 in total

1.  Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.

Authors:  Turgut Tukel; Drazen Šošić; Lihadh I Al-Gazali; Mónica Erazo; Jose Casasnovas; Hector L Franco; James A Richardson; Eric N Olson; Carmen L Cadilla; Robert J Desnick
Journal:  Am J Hum Genet       Date:  2010-08-13       Impact factor: 11.025

2.  Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells.

Authors:  Noe E Crespo; Alexandra Torres-Bracero; Jessicca Y Renta; Robert J Desnick; Carmen L Cadilla
Journal:  Int J Environ Res Public Health       Date:  2021-02-19       Impact factor: 3.390

  2 in total

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