
eMedicine - Aplastic Anemia : Article by Sameer Bakhshi, MD
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Aplastic Anemia - Aplastic anemia is a syndrome of bone-marrow failure characterized by peripheral pancytopenia and marrow hypoplasia. Paul Ehrlich, MD, introduced the concept of aplastic anemia in 1888 when he studied the case of a pregnant woman who died of bone-marrow failure. However, it was not until 1904 that Chauffard named this disorder w aplastic ... aplastic anemia, aplastic anemia, progressive hypocythemia, aregeneratory anemia, aleukia hemorrhagica, panmyelophthisis, hypoplastic anemia, toxic paralytic anemia, bone marrow failure syndrome, peripheral pancytopenia, |
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eMedicine - Möbius Syndrome : Article by Cheryl Ann Palmer
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Mobius syndrome is due, in part, to loss of function of motor cranial nerves (CNs). Although von Graefe described a case congenital facial diplegia, congenital nuclear agenesis, congenital nuclear hypoplasia, congenital oculofacial paraly |
magic foundation for children s growth : Hypophosphatasia
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Children with Growth hormone deficiency, congenital adrenal hyperplasia, septo optic dysplasia, optic nerve hypoplasia, McCune Albright, Russell-Silver & Turner syndrome, panhypopituitarism, small gestational age, failure thrive Hypophosphatasia |
Achondroplasia
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GeneReviews entry expert authored peer reviewed achondroplasia FGFR3 rhizomelic genu varum hypoplasia |
Achondroplasia
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GeneReviews entry expert authored peer reviewed achondroplasia FGFR3 rhizomelic genu varum hypoplasia |
CHARGE syndrome - Genetics Home Reference
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CHARGE syndrome, Abnormalities, Multiple, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, CHARGE syndrome, Brain and nervous system, Ear, nose, and throat, Eyes and vision, Heart and circulation, Reproductive system, CHD7, CHD7 gene, CHARGE acronym (Coloboma Heart defect Atresia choanae Retarded growth and development Genital hypoplasia Ear anomalies/deafness), CHARGE association, Hall-Hittner syndrome, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine, Disease and Gene Association, congenital, heritable disorders, inherited disorders |