Literature DB >> 29799648

The PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): a new Mendelian disorder of cornification.

A-C Bursztejn1,2, R Happle3, L Charbit1,2, J Küsel4, S Leclerc-Mercier5,6, S Hadj-Rabia5,7, S Fraitag6, A Zimmer4, J Fischer4.   

Abstract

Entities:  

Year:  2018        PMID： 29799648     DOI： 10.1111/jdv.15089

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN： 0926-9959            Impact factor:   6.166


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  3 in total

1.  Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia.

Authors:  Li Wu; Yajie Zhang; Juan Zi; Yinyan Yan; Lihua Yu; Danna Lin; Lulu Huang; Xiaorong Lai; Xu Liao; Lihua Yang
Journal:  Front Pediatr       Date:  2022-07-26       Impact factor: 3.569

2.  Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation.

Authors:  Lama Altawil; Hind Alshihry; Huda Alfaraidi; Amal Alhashem; Ahmed Alhumidi; Fowzan S Alkuraya
Journal:  JAAD Case Rep       Date:  2021-06-12

Review 3.  Recent advances in understanding inherited disorders of keratinization.

Authors:  Theodore Zaki; Keith Choate
Journal:  F1000Res       Date:  2018-06-27
  3 in total

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