Literature DB >> 20854407

A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family.

Y G Ding, J Y Wang, J J Qiao, X H Mao, S Q Cai.   

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Year:  2010        PMID： 20854407     DOI： 10.1111/j.1365-2133.2010.09890.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  5 in total

Review 1.  Golgi post-translational modifications and associated diseases.

Authors:  Sven Potelle; André Klein; François Foulquier
Journal:  J Inherit Metab Dis       Date:  2015-05-13       Impact factor: 4.982

Review 2.  Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.

Authors:  Hala Mégarbané; André Mégarbané
Journal:  Orphanet J Rare Dis       Date:  2011-05-21       Impact factor: 4.123

3.  A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome.

Authors:  Yanyun Jiang; Hongzhong Jin; Yueping Zeng
Journal:  Mol Genet Genomic Med       Date:  2019-06-18       Impact factor: 2.183

4.  A rare case of ichthyosis follicularis, alopecia & photophobia syndrome.

Authors:  Harsh Bhattacharjee; Akash Yadav
Journal:  Indian J Med Res       Date:  2013-12       Impact factor: 2.375

5.  Discovery in genetic skin disease: the impact of high throughput genetic technologies.

Authors:  Thiviyani Maruthappu; Claire A Scott; David P Kelsell
Journal:  Genes (Basel)       Date:  2014-08-04       Impact factor: 4.096
  5 in total

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