نتایج جستجو برای: growth failure
تعداد نتایج: 1172010 فیلتر نتایج به سال:
background: progeria syndrome is a very rare genetic disorder with an incidence of 1 in 8 million live births that is probably due to autosomal dominant mutation. clinical presentations show features of premature aging, growth failure, characteristic face, alopecia, loss of subcutaneous fat and stiffness of a joint that all become apparent during the 2nd year of life. the aim of this case repor...
OBJECTIVES Prominent growth failure typifies Rett syndrome (RTT). Our aims were to 1) develop RTT growth charts for clinical and research settings, 2) compare growth in children with RTT with that of unaffected children, and 3) compare growth patterns among RTT genotypes and phenotypes. METHODS A cohort of the RTT Rare Diseases Clinical Research Network observational study participants was re...
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