نتایج جستجو برای: genetic syndromes
تعداد نتایج: 687913 فیلتر نتایج به سال:
Aplasia cutis congenita is the congenital absence of skin mostcommonly affecting the scalp. No definite etiology is available butmultiple causes such as intrauterine infection, fetal exposure tococaine, heroin, alcohol or antithyroid drugs, vascular disruption,genetic causes, syndromes and teratogens have been suggested.We present an infant with extensive aplasia cutis of the trunk andthigh. He...
There has been significant advancement in the understanding of genetics pulmonary hypertension (PH), particularly those with heritable or idiopathic arterial hypertension. In addition to genetic variants a primarily vascular disease phenotype, prevalence PH other syndromes is increasingly recognized. We will review current knowledge associated multisystem syndromes. high coexisting cardiac and ...
Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnorm...
BACKGROUND Wilms Tumor (WT) can occur in association with tumor predisposition syndromes and/or with clinical malformations. These associations have not been fully characterized at a clinical and molecular genetic level. This study aims to describe clinical malformations, genetic abnormalities, and tumor predisposition syndromes in patients with WT and to propose guidelines regarding indication...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید