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02/2012
Isochromosome is a structurally unbalanced chromosome consisting of two short arms or two long arms, which are derived by abnormal centromere division or... 
mental retardation | mosaicism | Cytogenetic | Kabuki syndrome | isochromosome X | multiple malformation
Web Resource
by Crow, Y.J and Chase, D.S and Schmidt, J.L and Szynkiewicz, M and Forte, G.M.A and Gornall, H.L and Oojageer, A and Anderson, B and Pizzino, A and Helman, G and Abdel-Hamid, M.S and Abdel-Salam, G.M and Ackroyd, S and Aeby, A and Agosta, G and Albin, C and Allon-Shalev, S and Arellano, M and Ariaudo, G and Aswani, V and Babul-Hirji, R and Baildam, E.M and Bahi-Buisson, N and Bailey, K.M and Barnerias, C and Barth, M and Battini, R and Beresford, M.W and Bernard, G and Bianchi, M and de Villemeur, T.B and Blair, E.M and Bloom, M and Burlina, A.B and Carpanelli, M.L and Carvalho, D.R and Castro-Gago, M and Cavallini, A and Cereda, C and Chandler, K.E and Chitayat, D.A and Collins, A.E and Corcoles, C.S and Cordeiro, N.J.V and Crichiutti, G and Dabydeen, L and Dale, R.C and D'Arrigo, S and De Goede, C.G.E.L and de Laet, C and De Waele, L.M.H and Denzler, I and Desguerre, I and Devriendt, K and Di Rocco, M and Fahey, M.C and Fazzi, E and Ferrie, C.D and Figueiredo, A and Gener, B and Goizet, C and Gowrinathan, N.R and Gowrishankar, K and Hanrahan, D and Isidor, B and Kara, L and Khan, N and King, M.D and Kirk, E.P and Kumar, R and Lagae, L and Lanieu, P and Lauffer, H and Laugel, V and La Piana, R and Lim, M.J and Lin, J.P.S.M and Linnankivi, T and Mackay, M.T and Marom, D.R and Lourenco, C.M and McKee, S.A and Moroni, I and Morton, J.E.V and Moutard, M.L and Murray, K and Nabbout, R and Nampoothiri, S and Nunez-Enamorado, N and Oades, P.J and Olivieri, I and Ostergaard, J.R and Perez-Duenas, B and Prendiville, J.S and Ramesh, V and Rasmussen, M and Regal, L and Ricci, F and Rio, M and Knaap, M and ...
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2015, Volume 167, Issue 2, pp. 296 - 312
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2013, Volume 8, Issue 8, p. e73576
Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an... 
OCULODENTODIGITAL DYSPLASIA | FORAMEN MAGNUM DECOMPRESSION | CONNEXIN43 | TGF-BETA | BONE-FORMATION | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | JUNCTIONAL INTERCELLULAR COMMUNICATION | PARATHYROID-HORMONE | PHE377DEL MUTATION | OSTEOBLASTIC CELLS | Amino Acid Sequence | Tooth Abnormalities - diagnosis | Eye Abnormalities - diagnosis | Tooth Abnormalities - genetics | Genetic Association Studies | Humans | Molecular Sequence Data | Foot Deformities, Congenital - diagnosis | Foot Deformities, Congenital - genetics | Mutation, Missense | Eye Abnormalities - genetics | Genes, Recessive | Exome | Connexin 43 - chemistry | Sequence Alignment | Craniofacial Abnormalities - diagnosis | Pedigree | Consanguinity | High-Throughput Nucleotide Sequencing | Syndactyly - diagnosis | Craniofacial Abnormalities - genetics | Connexin 43 - genetics | Syndactyly - genetics | Phosphates | Dysplasia | Genetic aspects | Glutamine | Oculodentodigital dysplasia | Osteocytes | Genomes | Connexin 43 | Osteoblasts | Molecular weight | Proteins | Ethics | Biomedical materials | Missense mutation | Low molecular weights | Bone dysplasia | Bones | Biocompatibility | Deoxyribonucleic acid--DNA | Bone remodelling | Developmental biology | Abnormalities | Gap junctions | C-Terminus | Craniometaphyseal dysplasia | Hospitals | Chondrocytes | Syndactyly | Osteoclasts | Mutation | Bone | Transporter | Deoxyribonucleic acid | DNA
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 04/2019, Volume 64, Issue 4, pp. 323 - 331
Metachromatic leukodystrophy due to Arylsulfatase A enzyme deficiency is an autosomal recessive disorder caused by biallelic variations in ARSA gene. Till date... 
PHENOTYPE | MUTATIONS | IDENTIFICATION | PSAP GENES | FAMILIES | GENETICS & HEREDITY
Journal Article
Journal of Pediatric Neurology, ISSN 1304-2580, 06/2006, Volume 4, Issue 2, pp. 135 - 137
Abstract Schwartz-Jampel syndrome, also known as chondrodystrophica myotonia or myotonic myopathy is a rare, autosomal recessive disorder resulting from a... 
Case Report | Myotonic myopathy | Chondrodystrophic myotonia | Schwartz-Jampel syndrome | Learning disabilities | Birth weight | Physical growth | History | Kinases
Journal Article
Indian Journal of Orthopaedics, ISSN 0019-5413, 05/2015, Volume 49, Issue 3, pp. 361 - 364
Journal Article
Clinical and Experimental Nephrology, ISSN 1342-1751, 2/2017, Volume 21, Issue 1, pp. 134 - 135
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10157-016-1259-7 
Medicine & Public Health | Nephrology | Urology | Genetic research | Reports | Kidney diseases | Medical genetics
Journal Article
Indian Journal of Medical Research, ISSN 0971-5916, 2016, Volume 144, Issue August, pp. 206 - 214
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2014, Volume 164, Issue 11, pp. 2793 - 2801
Journal Article