Literature DB >> 27276700

MEND Syndrome: A Case Report with Scanning Electron Microscopy Findings of the Collodion Membrane.

Hiram de Almeida1, Cristina Has, Greice Rampon, Henrique Isaacsson, Luis Antonio Suita de Castro.   

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Year:  2017        PMID: 27276700     DOI: 10.2340/00015555-2477

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN: 0001-5555            Impact factor:   4.437


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  2 in total

1.  Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Authors:  María Carmen Barboza-Cerda; Oralia Barboza-Quintana; Gerardo Martínez-Aldape; Raquel Garza-Guajardo; Miguel Angel Déctor
Journal:  Mol Genet Genomic Med       Date:  2019-08-08       Impact factor: 2.183

2.  Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype.

Authors:  Pálma Anker; Norbert Kiss; István Kocsis; Éva Czemmel; Krisztina Becker; Sára Zakariás; Dóra Plázár; Klára Farkas; Balázs Mayer; Nikoletta Nagy; Márta Széll; Nándor Ács; Zsuzsanna Szalai; Márta Medvecz
Journal:  Life (Basel)       Date:  2021-06-27
  2 in total

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