4 Result(s)
within
Sonia Abdelhak
Medicine & Public Health
Internal Medicine
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Article
Open AccessCoexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports
Mal de Meleda is a rare form of palmoplantar keratoderma, with autosomal recessive transmission. It is characterized by diffuse erythema and hyperkeratosis of the palms and soles. Recently, mutations in the AR...
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Article
Open AccessClinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome
Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling pathway. Incontinentia Pig...
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Article
Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing
Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes with autosomal dominant inheritance pattern. The diagnosis of MODY and its subtypes is based on genetic testing. Our aim was investig...
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Article
Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young
Unexplained sudden death in the young is cardiovascular in most cases. Structural and conduction defects in cardiac-related genes can conspire to underlie sudden cardiac death. Here we report a clinical invest...
