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Neurogenetics, ISSN 1364-6745, 2013, Volume 14, Issue 1, pp. 43 - 51
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2015, Volume 23, Issue 2, pp. 224 - 228
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2005, Volume 139, Issue 1, pp. 40 - 44
Journal Article
Plastic and Reconstructive Surgery, ISSN 0032-1052, 06/2005, Volume 115, Issue 7, pp. 1894 - 1902
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2000, Volume 66, Issue 1, pp. 136 - 142
Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by an early-onset nonprogressive chorea. The early onset and the benign course... 
Chromosome 14q | Linkage study | Developmental disorder | Benign hereditary chorea | CELLS | MATURATION FACTOR-BETA | PROTEIN | GENE | GENETICS & HEREDITY | GLIA | HUNTINGTONS-DISEASE | EXPRESSION | LOCUS | IT15 | FAMILY | Haplotypes | Humans | Middle Aged | Child, Preschool | Male | Penetrance | Chromosome Mapping | Lod Score | Pedigree | Age of Onset | Adult | Female | Aged | Chorea - genetics | Chromosomes, Human, Pair 14 - genetics | Genetic aspects | Research | Chorea | Human genetics
Journal Article
Journal Article
The Journal of craniofacial surgery, ISSN 1049-2275, 11/2004, Volume 15, Issue 6, pp. 1048 - 1052
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2005, Volume 139A, Issue 1, pp. 40 - 44
Journal Article
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 11/2001, Volume 104, Issue 1, pp. 65 - 68
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 11/2001, Volume 104, Issue 1, pp. 65 - 68
We report on a sibship with protein‐losing enteropathy related to intestinal lymphangiectasia, a peculiar face, and genital anomalies. The parents are... 
lymphangiectasia | autosomal recessive inheritance | lymphedema | Urioste syndrome | persistent müllerian derivatives | Lymphedema | Lymphangiectasia | Autosomal recessive inheritance | Persistent müllerian derivatives
Journal Article