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Journal Article
Journal Article
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 04/2017, Volume 32, Issue 4, pp. 757 - 769
In 1985, we briefly characterized “congenital sclerosing osteomalacia with cerebral calcification” (CSOCC) in infant sisters. Later, Raine syndrome (RNS)... 
CRANIOFACIAL DYSOSTOSIS | OSTEOMALACIA | RICKETS | DENTIN MATRIX PROTEIN | KINASE | PHOSPHOPROTEOME | CROUZON SYNDROME | CRANIOSYNOSTOSIS | HYPOPHOSPHATEMIA | SIBLING PROTEINS | OSTEOPONTIN | METOPIC SUTURE | MINERALIZATION | OSTEOSCLEROSIS | OSTEOPETROSIS | TRIGONOCEPHALY | AUTOSOMAL RECESSIVE SYNDROME | INTRACRANIAL CALCIFICATION | HYPOPLASTIC NOSE | SECRETED PROTEINS | ENDOCRINOLOGY & METABOLISM | OSTEOSCLEROTIC BONE DYSPLASIA | ANHYDRASE-II DEFICIENCY | CASEIN KINASE | RENAL TUBULAR-ACIDOSIS | Abnormalities, Multiple - metabolism | Calcinosis - genetics | Microcephaly - genetics | Cerebrum - diagnostic imaging | Casein Kinase I - genetics | Osteomalacia - diagnostic imaging | Humans | Calcinosis - diagnostic imaging | Male | Cleft Palate - genetics | Exophthalmos - genetics | Osteosclerosis - metabolism | Adult | Cerebrum - metabolism | Female | Osteomalacia - metabolism | Osteosclerosis - genetics | Calcinosis - metabolism | Cleft Palate - diagnostic imaging | Cerebrum - pathology | Osteosclerosis - diagnostic imaging | Abnormalities, Multiple - genetics | Extracellular Matrix Proteins - metabolism | Infant, Newborn | Extracellular Matrix Proteins - genetics | Microcephaly - metabolism | Abnormalities, Multiple - diagnostic imaging | Exophthalmos - diagnostic imaging | Microcephaly - diagnostic imaging | Osteomalacia - genetics | Exophthalmos - metabolism | Casein Kinase I - metabolism | Cleft Palate - metabolism | Medical research | Dysplasia | Genetic disorders | Calcification | Medicine, Experimental | Genetics | Genetic aspects | Histochemistry | Index Medicus
Journal Article