Literature DB >> 14756676

Heterozygous manifestations in female carriers of Mal de Meleda.

M Mokni, C Charfeddine, R Ben Mously, D Baccouche, B Kaabi, A Ben Osman, K Dellagi, S Abdelhak.   

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Year:  2004        PMID： 14756676     DOI： 10.1111/j.0009-9163.2004.00224.x

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


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  4 in total

1.  Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports.

Authors:  Mbarka Bchetnia; Ahlem Merdassi; Cherine Charfeddine; Fatma Mgaieth; Selma Kassar; Farah Ouechtati; Ibtissem Chouchene; Hamouda Boussen; Mourad Mokni; Amel Dhahri-Ben Osman; Med Samir Boubaker; Sonia Abdelhak; Leila Elmatri
Journal:  J Med Case Rep       Date:  2010-04-20

2.  Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia: a case report.

Authors:  Jamie Willows; Maryam Al Badi; Chloe Richardson; Noel Edwards; Sarah Rice; John A Sayer
Journal:  F1000Res       Date:  2019-05-15

Review 3.  Diagnosis and Management of Inherited Palmoplantar Keratodermas.

Authors:  Bjorn R Thomas; Edel A O'Toole
Journal:  Acta Derm Venereol       Date:  2020-03-25       Impact factor: 3.875

4.  Nagashima-type palmoplantar keratosis in a Chinese Han population.

Authors:  Jia Zhang; Guolong Zhang; Cheng Ni; Ruhong Cheng; Jianying Liang; Ming Li; Zhirong Yao
Journal:  Mol Med Rep       Date:  2016-09-21       Impact factor: 2.952
  4 in total

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