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GENES, ISSN 2073-4425, 07/2019, Volume 10, Issue 7, p. 528
Occipital horn syndrome (OHS) is a rare connective tissue disorder caused by pathogenic variants in ATP7A, encoding a copper transporter. The main clinical... 
PROTEIN | Ehlers-Danlos syndrome type IX | SPLICE-SITE MUTATIONS | copper transport | collagen | NATURAL-HISTORY | ATP7A GENE | MENKES-DISEASE | review | GENETICS & HEREDITY | elastic fiber | occipital horn syndrome | Menkes syndrome | PATIENT | CANDIDATE GENE | ATP7A | EHLERS-DANLOS-SYNDROME | SKIN FIBROBLASTS | Ehlers–Danlos syndrome type IX
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2006, Volume 355, Issue 8, pp. 788 - 798
Journal Article
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2012, Volume 20, Issue 1, pp. 11 - 19
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 03/2011, Volume 26, Issue 3, pp. 666 - 672
Journal Article
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 11/2016, Volume 31, Issue 11, pp. 1930 - 1942
ABSTRACT Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the... 
OSTEOGENESIS IMPERFECTA | PLOD2 | COLLAGEN | LYSYL HYDROXYLASE 2 | BRUCK SYNDROME | TOMOGRAPHY | PROTEIN | CROSS-LINKING | PHENOTYPE | IDENTIFICATION | BONE-COLLAGEN | SYNDROME-OSTEOGENESIS IMPERFECTA | ENDOCRINOLOGY & METABOLISM | MUTATIONS | SKIN | Bone and Bones - pathology | Conserved Sequence - genetics | Osteogenesis Imperfecta - metabolism | Musculoskeletal Abnormalities - complications | Musculoskeletal Abnormalities - pathology | X-Ray Microtomography | Arthrogryposis - diagnostic imaging | Peptides - metabolism | Bone and Bones - diagnostic imaging | Mass Spectrometry | Lysine - metabolism | Arthrogryposis - pathology | Amino Acid Sequence | Catalytic Domain | Collagen Type I - metabolism | Hydroxylation | Larva - metabolism | Musculoskeletal Abnormalities - diagnostic imaging | Arthrogryposis - complications | Osteogenesis Imperfecta - complications | Osteogenesis Imperfecta - diagnostic imaging | Cross-Linking Reagents - metabolism | Phenotype | Animals | Musculoskeletal Abnormalities - metabolism | Calcification, Physiologic | Zebrafish - metabolism | Arthrogryposis - metabolism | Osteogenesis Imperfecta - pathology | Notochord - pathology | Zebrafish Proteins - genetics | Bone and Bones - abnormalities | Codon, Nonsense - genetics | Evolution, Molecular | Enzymes | Dysplasia | Crosslinked polymers | Lysine | Analysis | Collagen | Abnormalities | Bones
Journal Article
Journal Article