Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review. (Q35229848)

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English	Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.	scientific article

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3 February 2020

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Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review (English)

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Deborah V Novack

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3 February 2020

Michael P. Whyte

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Michael P Whyte

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William H. McAlister

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William H McAlister

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Steven Mumm

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Deborah Wenkert

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3 February 2020

Angie R Nenninger

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3 February 2020

Xiafang Zhang

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3 February 2020

Margaret Huskey

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1 November 2010

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3 February 2020

Journal of Bone and Mineral Research

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22 April 2019

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3 February 2020

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3 February 2020

2527-2539

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3 February 2020

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Creative Commons Attribution 2.5 Generic

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on focus list of Wikimedia project

0 references

Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand

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Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor

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Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations

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Robust and comprehensive analysis of 20 osteoporosis candidate genes by very high-density single-nucleotide polymorphism screen among 405 white nuclear families identified significant association and gene-gene interaction

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Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders

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Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters

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Osteomyelitis of the mandible in a patient with dysosteosclerosis. Report of a case

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Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis

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Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

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Osteoprotegerin deficiency and juvenile Paget's disease

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Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.

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Dysosteosclerosis: a report of three new cases and evolution of the radiological findings

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Case report: dysosteosclerosis: a unique entity.

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Evaluation of RANK/RANKL/OPG gene polymorphisms in aggressive periodontitis.

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A new bone syndrome with skin anomalies and neurologic disorders

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Spondylolysis in children who have osteopetrosis

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X-linked dysosteosclerosis. Four familial cases

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[Dysosteosclerosis--a special form of generalized osteosclerosis]

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

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Dysosteosclerosis in a mentally retarded boy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysosteosclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and radiologic findings in an adult male with dysosteosclerosis

1 reference

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12 December 2020

based on heuristic

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[Manifestation of dysosteosclerosis in the region of the jaw]

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysosteosclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Camurati-Engelmann disease: imaging, clinical features and differential diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysosteosclerosis: a case with unique dental findings and SEM evaluation of a hypoplastic tooth

1 reference

https://pubmed.ncbi.nlm.nih.gov/20499338

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fourier transform infrared microspectroscopic analysis of bones of osteocalcin-deficient mice provides insight into the function of osteocalcin

1 reference

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12 December 2020

based on heuristic

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Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

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12 December 2020

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Identifiers

10.1002/JBMR.131

1 reference

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3 February 2020

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3 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

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3 February 2020

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