Literature DB >> 21981446

Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair.

F J D Smith, N J Wilson, C Moss, P Dopping-Hepenstal, J McGrath.   

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Year:  2011        PMID： 21981446     DOI： 10.1111/j.1365-2133.2011.10664.x

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


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  3 in total

1.  Desmoplakin is required for epidermal integrity and morphogenesis in the Xenopus laevis embryo.

Authors:  Navaneetha Krishnan Bharathan; Amanda J G Dickinson
Journal:  Dev Biol       Date:  2019-03-29       Impact factor: 3.582

2.  The molecular genetic analysis of the expanding pachyonychia congenita case collection.

Authors:  N J Wilson; E A O'Toole; L M Milstone; C D Hansen; A A Shepherd; E Al-Asadi; M E Schwartz; W H I McLean; E Sprecher; F J D Smith
Journal:  Br J Dermatol       Date:  2014-08-06       Impact factor: 9.302

3.  Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.

Authors:  Lynn M Boyden; Chen Y Kam; Angela Hernández-Martín; Jing Zhou; Brittany G Craiglow; Robert Sidbury; Erin F Mathes; Sheilagh M Maguiness; Debra A Crumrine; Mary L Williams; Ronghua Hu; Richard P Lifton; Peter M Elias; Kathleen J Green; Keith A Choate
Journal:  Hum Mol Genet       Date:  2015-11-24       Impact factor: 6.150
  3 in total

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