Literature DB >> 15283804

Stiff skin syndrome is highly heterogeneous, and congenital fascial dystrophy is its distinct subset.

Stephania Jablonska1, Maria Blaszczyk.   

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Year:  2004        PMID： 15283804     DOI： 10.1111/j.0736-8046.2004.21422.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN： 0736-8046            Impact factor:   1.588


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  4 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.  Atypical presentation of scleroderma in infancy.

Authors:  Navin Mishra; Devendra Shrestha; Rakesh Babu Poudyal; K C Shiva Raj
Journal:  Rheumatol Int       Date:  2011-02-16       Impact factor: 2.631

3.  Stiff skin syndrome versus scleroderma: a report of two cases.

Authors:  V F Azevedo; S Z Serafini; B Werner; C S Müller; C F M Franchini; R L S L Morais
Journal:  Clin Rheumatol       Date:  2009-05-05       Impact factor: 2.980

4.  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
  4 in total

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