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1 Generalized arterial calcification of infancy Description GACIGACI system that becomes apparent before birth or within the first few months of life It is calcificationcalcification walls of the bl. 1 PURA gene purine rich element binding protein A Normal Function The PURA gene provides instructions for making a protein called Pur-alpha (Pur a ), binda molecular cousin of DNAa molecular cousin 1 PIGO gene phosphatidylinositol glycan anchor biosynthesis class O Normal Function The PIGO gene provides instructions for making one part of an enzyme called GPI GPI-ET3GPI-ET3 produced from a ge 1 How Genes Work 1 What are proteins and what do they do? Proteins are large, complex molecules that play many critical roles in the body. They do most of the work in cells and are required for t 1Pulmonary veno-occlusive diseaseDescriptionPVODocclusionocclusionoxygenatedoxygenatedthe pulmonary veinsthe pulmonary veinstissue in the small veins in the lungs which narrows the vessels and impairs Geneticsshttps//medlineplusgov/geneticMedlinePlus Genetics offers information about more than 1300 genetic conditions 1400 genes all of the human chromosomes and mitochondrial DNA MedlinePlus Genetics 1MelanomaDescriptionMelanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes This cancer typically occurs in areas that are only occasionally sun-exposed tumors are 1 Gorlin syndrome Description Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various can 1 Cells and DNA 1 What is a cell? Cells are the basic building blocks of all living things. The human body is composed of trillions of cells. They provide structure for the body, take in nutrient 1 Atopic dermatitis Description also known as atopic eczemaalso known as atopic eczema dermatitisdermatitis often disappears before adolescence. However, in some affected individuals the condition co 1 Dupuytren contracture Description Dupuytren contracture is characterized by a deformity of the hand in which the joints of extendedextended flexedflexed supports the body's muscles, joints, organs, 1 EGFR gene epidermal growth factor receptor Normal Function The EGFR gene provides instructions for making a receptor protein called the epidermal growth factor receptor, which spans the cell memb 1 ADAMTS2 gene ADAM metallopeptidase with thrombospondin type 1 motif 2 Normal Function The ADAMTS2 gene provides instructions for making an enzyme that processes several types of procollagen molec 1 Ellis-van Creveld syndrome Description Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very dwarfismdwarfism lower legs and a narrow chest with short ribs. Ellis- 1 Pantothenate kinase-associated neurodegeneration Description Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This