Literature DB >> 8818454

Setleis syndrome: autosomal recessive or autosomal dominant inheritance?

L I al-Gazali1, J al-Talabani.   

Abstract

Setleis syndrome is a rare skin disorder characterized by congenital scar-like depressions on the temples and distinctive facial appearance. We report on two cases from a consanguineous Omani family, with typical features of this syndrome. The mother in one case has mild dysmorphic features reminiscent of this syndrome and the father of the other case has bitemporal scars only.

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Year:  1996        PMID: 8818454

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


  4 in total

1.  Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.

Authors:  Anne M Slavotinek; Pavni Mehrotra; Irina Nazarenko; Paul Ling-Fung Tang; Richard Lao; Don Cameron; Ben Li; Catherine Chu; Chris Chou; Ann L Marqueling; Mani Yahyavi; Kelly Cordoro; Ilona Frieden; Tom Glaser; Trine Prescott; Marie-Anne Morren; Koen Devriendt; Pui-yan Kwok; Martin Petkovich; Robert J Desnick
Journal:  Hum Mol Genet       Date:  2012-11-16       Impact factor: 6.150

2.  Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.

Authors:  R Ozgur Rosti; Z Oya Uyguner; Irina Nazarenko; Mehmet Bekerecioglu; Carmen L Cadilla; Hilal Ozgur; Beom Hee Lee; Aneel K Aggarwal; Sacide Pehlivan; Robert J Desnick
Journal:  Clin Genet       Date:  2014-12-11       Impact factor: 4.438

3.  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

4.  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

  4 in total

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