Literature DB >> 26473995

Noteworthy clinical findings of harlequin ichthyosis: digital autoamputation caused by cutaneous constriction bands in a case with novel ABCA12 mutations.

K Tanahashi1, K Sugiura1, T Sato2, M Akiyama1.   

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Year:  2015        PMID： 26473995     DOI： 10.1111/bjd.14228

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


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  3 in total

1.  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.  Early escharotomy-like procedure for the prevention of extremity autoamputation in harlequin ichthyosis.

Authors:  Yu-Ying Chu; Mei-Yin Lai; Han-Tsung Liao
Journal:  Biomed J       Date:  2021-04-11       Impact factor: 4.910

Review 3.  Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.

Authors:  E Cuperus; A Bygum; L Boeckmann; C Bodemer; M C Bolling; M Caproni; A Diociaiuti; S Emmert; J Fischer; A Gostynski; S Guez; M E van Gijn; K Hannulla-Jouppi; C Has; A Hernández-Martín; A E Martinez; J Mazereeuw-Hautier; M Medvecz; I Neri; V Sigurdsson; K Suessmuth; H Traupe; V Oji; S G M A Pasmans
Journal:  J Eur Acad Dermatol Venereol       Date:  2022-03-15       Impact factor: 9.228
  3 in total

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