Literature DB >> 29722424

Hearing impairment: A secondary symptom in a congenital ichthyosiform erythroderma patient with ABCA12 mutations.

Chiaki Murase1, Takuya Takeichi1, Kazumitsu Sugiura2, Miki Kobayashi3, Kozue Shiomi3, Kaichiro Ikebuchi4, Yutaka Tsutsumi5, Masashi Akiyama1.   

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Year:  2018        PMID： 29722424     DOI： 10.1111/1346-8138.14350

Source DB:  PubMed          Journal:  J Dermatol        ISSN： 0385-2407            Impact factor:   4.005


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  2 in total

1.  Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient.

Authors:  Zhou Yang; Zhan Qi; Zhe Xu; Wei Li; Lin Ma
Journal:  Pediatr Investig       Date:  2020-03-17

2.  A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

Authors:  Martha Montalván-Suárez; Uxia Saraiva Esperón-Moldes; Laura Rodríguez-Pazos; Andrés Ordóñez-Ugalde; Fernanda Moscoso; Nora Ugalde-Noritz; Luis Santomé; Laura Fachal; Daniel Tettamanti-Miranda; Juan Carlos Ruiz; Manuel Ginarte; Ana Vega
Journal:  Mol Genet Genomic Med       Date:  2019-03-27       Impact factor: 2.183
  2 in total

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