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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
The American Journal of Human Genetics, ISSN 0002-9297, 02/2010, Volume 86, Issue 2, pp. 254 - 261
Journal Article
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 07/2014, Volume 99, Issue 7, pp. 665 - 665
  Goldenhar syndrome (oculo-auriculo-vertebral spectrum), a rare condition that occurs sporadically in the majority of cases, is the result of developmental... 
PEDIATRICS | Musculoskeletal Abnormalities - complications | Female | Hearing Loss, Sensorineural - complications | Goldenhar Syndrome - diagnosis | Child | Humans | Scoliosis | Ears & hearing
Journal Article
World Neurosurgery, ISSN 1878-8750, 2016, Volume 87, pp. 55 - 60
Journal Article
Journal Article
Medicine, ISSN 0025-7974, 08/2018, Volume 97, Issue 31, p. e11623
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 03/2016, Volume 58, Issue 3, pp. 292 - 297
Journal Article