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DISEASE MODELS & MECHANISMS, ISSN 1754-8403, 06/2019, Volume 12, Issue 6, p. dmm038521
Osteogenesis imperfecta (OI) types VII, VIII and IX, caused by recessive mutations in cartilage-associated protein (CRTAP), prolyl-3-hydroxylase 1 (P3H1) and... 
Chemical chaperone | PROTEIN | 4-PBA | RECESSIVE OSTEOGENESIS IMPERFECTA | PHENOTYPE | AUTOPHAGY | PATHOLOGY | DEFICIENCY | Endoplasmic reticulum stress | Unfolded protein response | CELL BIOLOGY | CYCLOPHILIN-B | 3-HYDROXYLATION | MOUSE MODEL | Osteogenesis imperfecta | MUTATIONS | LETHAL | 311
Journal Article
Journal Article
American journal of medical genetics. Part A, 12/2018
GAPO syndrome is a very rare disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy. It is caused by biallelic... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2019, Volume 179, Issue 2, pp. 237 - 242
GAPO syndrome is a very rare disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy. It is caused by biallelic... 
Egyptian patients | gene | ANTXR1 | novel mutations | GAPO syndrome | large intragenic deletion | ANTXR1 gene | GENETICS & HEREDITY | Glaucoma | Medical research | Gene mutations | Analysis | Genetic research | Medicine, Experimental | Genetic aspects | Atrophy | Alopecia | Optic atrophy | Growth rate | Baldness | Clonal deletion | Frameshift mutation | Extracellular matrix | Mutation | Gene deletion | Patients
Journal Article
Genetics in Medicine, ISSN 1098-3600, 12/2018, Volume 20, Issue 12, pp. 1609 - 1616
Purpose: To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly... 
osteogenesis imperfecta | craniosynostosis | Toriello–Carey | Toriello-Carey | RECESSIVE OSTEOGENESIS IMPERFECTA | CLASSIFICATION | DISORDERS | CLINICAL GENOMICS | HETEROGENEITY | GENETICS | NOSOLOGY | GENETICS & HEREDITY | MUTATIONS | WNT
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
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/1979, Volume 55, Issue 4, p. 278
BackgroundStüve-Wiedemann syndrome (SWS) is characterised by bowing of the lower limbs, respiratory distress and hyperthermia that are often responsible for... 
Journal Article
Journal Article
The Egyptian Journal of Medical Human Genetics, ISSN 1110-8630, 05/2009, Volume 10, Issue 1, p. 13
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2015, Volume 167, Issue 12, pp. 3054 - 3061
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 01/2017, Volume 5, Issue 1, pp. 28 - 39
Journal Article