Literature DB >> 1227550

Stiff skin syndrome.

S E Bundy, K Lie.   

Abstract

Entities:  

Mesh：

Year:  1975        PMID： 1227550

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  2 in total

1.  Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

Authors:  B L Loeys; E E Gerber; D Riegert-Johnson; S Iqbal; P Whiteman; V McConnell; C R Chillakuri; D Macaya; P J Coucke; A De Paepe; D P Judge; F Wigley; E C Davis; H J Mardon; P Handford; D R Keene; L Y Sakai; H C Dietz
Journal:  Sci Transl Med       Date:  2010-03-17       Impact factor: 17.956

2.  Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation.

Authors:  Carmela Fusco; Grazia Nardella; Bartolomeo Augello; Francesca Boccafoschi; Orazio Palumbo; Luca Fusaro; Angelantonio Notarangelo; Raffaela Barbano; Paola Parrella; Giuseppina Annicchiarico; Carmela De Meco; Lucia Micale; Paolo Graziano; Marco Castori
Journal:  Int J Mol Sci       Date:  2020-07-20       Impact factor: 5.923
  2 in total

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