Literature DB >> 1957643

Setleis bitemporal "forceps marks" syndrome and its pathogenesis: a case report.

S Matsumoto1, T Kuno, Y Hamasaki, S Miyazaki, S Miyabara, Y Narisawa.   

Abstract

Setleis bitemporal "forceps marks" syndrome is characterized by "forceps marks" and a peculiar facies. The syndrome has previously been reported mainly in the Puerto Rican population. We describe here a Japanese boy with the syndrome. In addition, the hypothesis is presented that the Setleis syndrome may result from an insufficient migration of neural crest cells into the frontonasal process and the first branchial arch.

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Year:  1991        PMID: 1957643     DOI: 10.1111/j.1442-200x.1991.tb01541.x

Source DB:  PubMed          Journal:  Acta Paediatr Jpn        ISSN: 0374-5600


  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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