Background Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessive peroxisome biogenesis disorders caused by mutations in the PEX7 gene. RCDP patients with the classic form of RCDP1 do not live more than 10- year. Materials and Methods In the present study, a two-year-old girl with skeletal abnormalities and dysmorphic facial appearance is reported to be suf...

Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease leading to a progressive multisystem disease. CTX with autosomal recessive inheritance is caused by a defect in the CYP27A1 gene. Hallmark clinical manifestations of CTX include bilateral cataracts, chronic diarrhea, tendon xanthomas, and neurologic dysfunction. CTX is a rare disorder, which is supposed to be under-diag...

Camurati-Engelmann disease is a rare autosomal dominant bone dysplasia belonging to the group of craniotubular hyperostoses. Genetic analysis classically shows mutation on TGF?1 gene. A young woman was hospitalized with intense pain in lower limbs, associated radiographic hyperostosis and sclerosis long bones. Mutation LRP6 has recently been high mass. In this case report, missense variant gene...

Mutation and drift play opposite roles in genetics. While mutation creates diversity, can cause gene variants to disappear, especially when they are rare. In the absence of natural selection migration, balance between a well-mixed population defines its diversity. The Moran model captures effects these two evolutionary forces has counterpart social dynamics, known as Voter with external opinion...

In metastatic stage, therapeutic approach for malignant melanoma is particularly based on performance status, sites, and BRAF V600 status (BRAF V600E/V600K or V600R (class I mutations). most cases, mutations NRAS are mutually exclusive to each other. However, some rare class III preferentially associated with a mutation, leading the MAP Kinase pathway activation subsequent cell proliferation. M...

Objective: Erdheim-Chester disease is a rare form of non-Langerhans cell histiocytosis unknown etiology. It multisystemic that can involve bones, skin, brain, retroperitoneum, cardiovascular system, endocrine and lungs. Diagnosis made by clinical findings, imaging results, histopathological examination. BRAFV600E (B-rapidly accelerated fibrosarcoma gene) mutation found in more than half the cas...

hnf4a-p.i463vvariant, reported previously in two distinct families suspected of mody-1, is assessed in this report to determine whether it is a mutation or a polymorphism (frequency >1%).200 tunisian healthy people were screened for the presence of hnf4a-p.i463v variant, using rflp-pcr technique and sequencing. then, the frequency of this variant was estimated in the tunisian population and com...