Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis

Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis

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http://www.wikidata.org/entity/Q28272599
"Laminopathies": a wide spectrum of human diseases.Benign spotted bones: a diagnostic dilemma.Melorheostosis - Case Report of Rare DiseasePopulation structure of eleven Spanish ovine breeds and detection of selective sweeps with BayeScan and hapFLKCase report: severe melorheostosis involving the ipsilateral extremities.Sclerosing bone dysplasias: leads toward novel osteoporosis treatments.Melorheostosis: a Rare Sclerosing Bone Dysplasia.Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant.Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders.Managing Recurrence in Intraarticular Melorheostosis Involving the Knee Joint: A Case Report.Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.The Role of the Nuclear Envelope Protein MAN1 in Mesenchymal Stem Cell Differentiation.Boston type craniosynostosis: report of a second mutation in MSX2.Somatic activating mutations in MAP2K1 cause melorheostosis.
P2860

Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis

Item
http://www.wikidata.org/entity/Q28272599
description
2007 nî lūn-bûn
@nan
2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Deactivating germline mutation ...... ut not sporadic melorheostosis
@ast
Deactivating germline mutation ...... ut not sporadic melorheostosis
@en
Deactivating germline mutation ...... ut not sporadic melorheostosis
@nl
type
label
Deactivating germline mutation ...... ut not sporadic melorheostosis
@ast
Deactivating germline mutation ...... ut not sporadic melorheostosis
@en
Deactivating germline mutation ...... ut not sporadic melorheostosis
@nl
prefLabel
Deactivating germline mutation ...... ut not sporadic melorheostosis
@ast
Deactivating germline mutation ...... ut not sporadic melorheostosis
@en
Deactivating germline mutation ...... ut not sporadic melorheostosis
@nl
P1433
P1476
P2093
P304
P31
P3181
P356
P407
P433
P478
P577
P5875
P698
P3181
P356
P1433
P1476
Deactivating germline mutation ...... ut not sporadic melorheostosis
@en
P2093
P304
P31
P3181
P356
P407
P433
P478
P577
P5875
P698