Literature DB >> 5358102

Hereditary sclerosing poikiloderma. Report of two families with an unusual and distinctive genodermatosis.

P E Weary, Y T Hsu, D R Richardson, C M Caravati, B T Wood.   

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Year:  1969        PMID： 5358102     DOI： 10.1001/archderm.100.4.413

Source DB:  PubMed          Journal:  Arch Dermatol        ISSN： 0003-987X


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  5 in total

1.  CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).

Authors:  Sébastien Küry; Sandra Mercier; Gasnat Shaboodien; Thomas Besnard; Sébastien Barbarot; Nonhlanhla P Khumalo; Bongani M Mayosi; Stéphane Bézieau
Journal:  Eur J Hum Genet       Date:  2015-10-07       Impact factor: 4.246

2.  Two first cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form), one also with poikiloderma atrophicans vasculare progressing to lymphocytic lymphoma.

Authors:  W A Branford; G W Beveridge; R Wynne-Davies
Journal:  J Med Genet       Date:  1982-06       Impact factor: 6.318

3.  Hereditary sclerosing poikiloderma.

Authors:  Hyo Jin Lee; Dong Hoon Shin; Jong Soo Choi; Ki Hong Kim
Journal:  J Korean Med Sci       Date:  2012-01-27       Impact factor: 2.153

4.  Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Authors:  Sandra Mercier; Sébastien Küry; Emmanuelle Salort-Campana; Armelle Magot; Uchenna Agbim; Thomas Besnard; Nathalie Bodak; Chantal Bou-Hanna; Flora Bréhéret; Perrine Brunelle; Florence Caillon; Brigitte Chabrol; Valérie Cormier-Daire; Albert David; Bruno Eymard; Laurence Faivre; Dominique Figarella-Branger; Emmanuelle Fleurence; Mythily Ganapathi; Romain Gherardi; Alice Goldenberg; Antoine Hamel; Jeanine Igual; Alan D Irvine; Dominique Israël-Biet; Caroline Kannengiesser; Christian Laboisse; Cédric Le Caignec; Jean-Yves Mahé; Stéphanie Mallet; Stuart MacGowan; Maeve A McAleer; Irwin McLean; Cécile Méni; Arnold Munnich; Jean-Marie Mussini; Peter L Nagy; Jeffrey Odel; Grainne M O'Regan; Yann Péréon; Julie Perrier; Juliette Piard; Eve Puzenat; Jacinda B Sampson; Frances Smith; Nadem Soufir; Kurenai Tanji; Christel Thauvin; Christina Ulane; Rosemarie M Watson; Nonhlanhla P Khumalo; Bongani M Mayosi; Sébastien Barbarot; Stéphane Bézieau
Journal:  Orphanet J Rare Dis       Date:  2015-10-15       Impact factor: 4.123

5.  Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

Authors:  Sandra Mercier; Sébastien Küry; Gasnat Shaboodien; Darren T Houniet; Nonhlanhla P Khumalo; Chantal Bou-Hanna; Nathalie Bodak; Valérie Cormier-Daire; Albert David; Laurence Faivre; Dominique Figarella-Branger; Romain K Gherardi; Elise Glen; Antoine Hamel; Christian Laboisse; Cédric Le Caignec; Pierre Lindenbaum; Armelle Magot; Arnold Munnich; Jean-Marie Mussini; Komala Pillay; Thahira Rahman; Richard Redon; Emmanuelle Salort-Campana; Mauro Santibanez-Koref; Christel Thauvin; Sébastien Barbarot; Bernard Keavney; Stéphane Bézieau; Bongani M Mayosi
Journal:  Am J Hum Genet       Date:  2013-11-21       Impact factor: 11.025
  5 in total

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