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Nosology and classification of genetic skeletal disorders: 2015 revision.

Nosology and classification of genetic skeletal disorders: 2015 revision.

http://www.wikidata.org/entity/Q52862133

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Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects Guidelines for genetic skeletal dysplasias for pediatricians Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.Skeletal Dysplasias That Cause Thoracic Insufficiency in Neonates: Illustrative Case Reports Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders.Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.Skeletal Dysplasias: Growing Therapy for Growing Bones.A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes.Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.Long-Term Bisphosphonate Therapy in Osteogenesis Imperfecta.Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know.Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation.Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility.BMP signalling in skeletal development, disease and repair.Transcriptional control of chondrocyte specification and differentiation.Genetics of osteoporosis: searching for candidate genes for bone fragility.Ossification center of the humeral shaft in the human fetus: a CT, digital, and statistical study.Signaling pathways regulating cartilage growth plate formation and activity.Osteogenesis imperfecta in children and adolescents-new developments in diagnosis and treatment.INPPL1 gene mutations in opsismodysplasia Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1.NANS-mediated synthesis of sialic acid is required for brain and skeletal development.CLINICAL FEATURES AND PATTERN OF FRACTURES AT THE TIME OF DIAGNOSIS OF OSTEOGENESIS IMPERFECTA IN CHILDREN.DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.Three-dimensional ultrasound imaging of the fetal skull and face.A degradation fragment of type X collagen is a real-time marker for bone growth velocity.Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta.Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

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P2860

Nosology and classification of genetic skeletal disorders: 2015 revision.

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Nosology and classification of genetic skeletal disorders: 2015 revision.

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Nosology and classification of genetic skeletal disorders: 2015 revision.

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Nosology and classification of genetic skeletal disorders: 2015 revision.

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Nosology and classification of genetic skeletal disorders: 2015 revision.

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Nosology and classification of genetic skeletal disorders: 2015 revision.

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American Journal of Medical Genetics

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Nosology and classification of genetic skeletal disorders: 2015 revision.

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Andrea Superti-Furga

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Christine Hall

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David Sillence

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Gen Nishimura

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Jürgen Spranger

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Luca Sangiorgi

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Ravi Savarirayan

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P2860

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment

A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia

International nomenclature and classification of the osteochondrodysplasias (1997).

International nosology and classification of constitutional disorders of bone (2001).

Nosology and classification of genetic skeletal disorders: 2010 revision.

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Valerie Cormier-Daire

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282276675

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