Sanaa Nassereddine

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Prader-Willi syndrome (PWS) is neurogenetic disorder involving the imprinting mechanism at 15q11-13 region. We report a 4-year-old girl who was referred to our laboratory to be investigated for clinical obesity, mental deficiency and respiratory problems. The patient was born for non-consanguineous and healthy biological parents. After normal pregnancy, the(More)
Hypertension is a multifactorial disease caused by the interaction between genetic and environmental factors. Mutations in the methylenetetrahydrofolate reductase gene (MTHFR) have been known to be associated with the risk of cardiovascular disease as well as hypertension. This case–control study was conducted out to measure the association of the(More)
Polycythemia Vera (PV) is a rare disorder in children and adolescents. Data on clinical and biological features as well as on treatment modalities are sparse. The V617F mutation of JAK2 has been described recently and is found in almost 90% of adult patients with PV. This mutation allows now a reliable and early diagnosis. Therapeutic management is based on(More)
Kabuki syndrome (KS, Niikawa-Kuroki syndrome, MIM:147920) is a rare multiple congenital anomaly/mental retardation syndrome described simultaneously by Niikawa et al, 1988 and Kuroki et al, 1981. The estimated frequency of this syndrome is about 1/32 000 in Japan. KS is characterized by postnatal growth retardation, distinctive facial features,(More)
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