Literature DB >> 3757302

Autosomal dominant lamellar ichthyosis.

J Toribio, V Fernández Redondo, C Peteiro, A Zulaica, J M Fabeiro.   

Abstract

Five members of two generations of one family were affected with lamellar ichthyosis, suggesting autosomal dominant transmission. The clinical and histopathological characteristics of the cases described here are similar to those reported by Traupe et al. (1984) as autosomal dominant lamellar ichthyosis and thus confirm the existence of this new form of ichthyosis.

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Year:  1986        PMID： 3757302     DOI： 10.1111/j.1399-0004.1986.tb00580.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

1.  Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.

Authors:  L M Boyden; B G Craiglow; R H Hu; J Zhou; J Browning; L Eichenfield; Y L Lim; M Luu; L M Randolph; M Ginarte; L Fachal; L Rodriguez-Pazos; A Vega; D Kramer; G Yosipovitch; H Vahidnezhad; L Youssefian; J Uitto; R P Lifton; A S Paller; L M Milstone; K A Choate
Journal:  Br J Dermatol       Date:  2017-06-07       Impact factor: 9.302

2.  Clinico-epidemiological Study of Congenital Ichthyosis in a Tertiary Care Center of Eastern India.

Authors:  Arghyaprasun Ghosh; Rahul Ahar; Gobinda Chatterjee; Neha Sharma; Shruti Alhad Jadhav
Journal:  Indian J Dermatol       Date:  2017 Nov-Dec       Impact factor: 1.494

3.  Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.

Authors:  Mariem Ennouri; Andreas D Zimmer; Emna Bahloul; Rim Chaabouni; Slaheddine Marrakchi; Hamida Turki; Faiza Fakhfakh; Noura Bougacha-Elleuch; Judith Fischer
Journal:  BMC Med Genomics       Date:  2022-01-05       Impact factor: 3.063
  3 in total

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