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Alström syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. Alström Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought(More)
Neu-Laxova syndrome (NLS) is a rare, uniformly lethal congenital disease characterized by abnormalities of placentation, marked intrauterine growth retardation (IUGR), limb contractures, edema, ichthyosis, central nervous system (CNS) developmental defects and unique facial appearance. The degrees and presence of these findings are variable in reported(More)
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