Literature DB >> 14069095

CONGENITAL ECTODERMAL DYSPLASIA OF THE FACE.

H SETLEIS, B KRAMER, M VALCARCEL, A H EINHORN.   

Abstract

Entities:  

Keywords:  ECTODERMAL DEFECT, CONGENITAL; FACE; GENETICS, HUMAN

Mesh:

Year:  1963        PMID: 14069095

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


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  11 in total

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2.  A novel frameshift mutation in TWIST2 gene causing Setleis syndrome.

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4.  Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies.

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Journal:  J Med Genet       Date:  1968-12       Impact factor: 6.318

5.  Hypohidrotic ectodermal dysplasia in females. A critical analysis and argument for genetic heterogeneity.

Authors:  R J Gorlin; T Old; V E Anderson
Journal:  Z Kinderheilkd       Date:  1970

6.  Anhidrotic hereditary ectodermal dysplasia. Case report with a short review of the literature.

Authors:  H L Gupta; H Singh; B R Prabhakar
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7.  Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.

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8.  Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin.

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9.  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
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10.  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

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