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

Journal of Medical Case Reports

Volumn 4, Issue , 2010, Pages

  Bchetnia, Mbarka ^a,b   Merdassi, Ahlem ^c   Charfeddine, Cherine ^a   Mgaieth, Fatma ^c   Kassar, Selma ^a   Ouechtati, Farah ^c   Chouchene, Ibtissem ^c   Boussen, Hamouda ^d   Mokni, Mourad ^b   Osman, Amel Dhahri Ben ^b   Boubaker, Med Samir ^a   Abdelhak, Sonia ^a   Elmatri, Leila ^c  

^a PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^b LA RABTA HOSPITAL   (Tunisia)

^c Hôpital Hedi Rais Tunis   (Tunisia)

^d SALAH AZAIEZ INSTITUTE   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

ARS PROTEIN; HEAT SHOCK FACTOR 4; PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CONGENITAL CATARACT; DISEASE ASSOCIATION; EYE; FEMALE; GENE MUTATION; HUMAN; INTRON; MAL DE MELEDA; MUTATIONAL ANALYSIS; PALMOPLANTAR KERATODERMA; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL ACUITY;

EID: 77950937553     PISSN: 17521947     EISSN: 17521947     Source Type: Journal    
DOI: 10.1186/1752-1947-4-108     Document Type: Article

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