Literature DB >> 16045708

Wrinkly skin syndrome.

H Hamamy, A Masri, K Ajlouni.   

Abstract

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Year:  2005        PMID： 16045708     DOI： 10.1111/j.1365-2230.2005.01825.x

Source DB:  PubMed          Journal:  Clin Exp Dermatol        ISSN： 0307-6938            Impact factor:   3.470


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  3 in total

Review 1.  Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.

Authors:  Ariana Kariminejad; Fariba Afroozan; Bita Bozorgmehr; Alireza Ghanadan; Susan Akbaroghli; Hamid Reza Khorram Khorshid; Faezeh Mojahedi; Aria Setoodeh; Abigail Loh; Yu Xuan Tan; Nathalie Escande-Beillard; Fransiska Malfait; Bruno Reversade; Thatjana Gardeitchik; Eva Morava
Journal:  Int J Mol Sci       Date:  2017-03-15       Impact factor: 5.923

2.  Mutations in PYCR1 cause cutis laxa with progeroid features.

Authors:  Bruno Reversade; Nathalie Escande-Beillard; Aikaterini Dimopoulou; Björn Fischer; Serene C Chng; Yun Li; Mohammad Shboul; Puay-Yoke Tham; Hülya Kayserili; Lihadh Al-Gazali; Monzer Shahwan; Francesco Brancati; Hane Lee; Brian D O'Connor; Mareen Schmidt-von Kegler; Barry Merriman; Stanley F Nelson; Amira Masri; Fawaz Alkazaleh; Deanna Guerra; Paola Ferrari; Arti Nanda; Anna Rajab; David Markie; Mary Gray; John Nelson; Arthur Grix; Annemarie Sommer; Ravi Savarirayan; Andreas R Janecke; Elisabeth Steichen; David Sillence; Ingrid Hausser; Birgit Budde; Gudrun Nürnberg; Peter Nürnberg; Petra Seemann; Désirée Kunkel; Giovanna Zambruno; Bruno Dallapiccola; Markus Schuelke; Stephen Robertson; Hanan Hamamy; Bernd Wollnik; Lionel Van Maldergem; Stefan Mundlos; Uwe Kornak
Journal:  Nat Genet       Date:  2009-08-02       Impact factor: 38.330

3.  Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child.

Authors:  Rakesh Kumar; Sheetal Sharda; Vimlesh Soni; Kaniyappan Nambiyar
Journal:  Indian Dermatol Online J       Date:  2017 Sep-Oct
  3 in total

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