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Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.
Zhang Q, Mo ZH, Dong CS, Yang F, Xie YH, Jin P. Zhang Q, et al. J Endocrinol Invest. 2016 Jun;39(6):679-85. doi: 10.1007/s40618-015-0419-z. Epub 2015 Dec 22. J Endocrinol Invest. 2016. PMID: 26694706 Review.
RESULTS: A novel heterozygous c.2612_2613insA (p.Y871X) mutation in exon 13 of LEMD3 was identified, which resulted in a frame shift predicted to generate a premature stop codon at amino acid position 871. ...
RESULTS: A novel heterozygous c.2612_2613insA (p.Y871X) mutation in exon 13 of LEMD3 was identified, which resulted in a frame shift pred …
Clinical features of ten cases of osteopoikilosis.
Carpintero P, Abad JA, Serrano P, Serrano JA, Rodríguez P, Castro L. Carpintero P, et al. Clin Rheumatol. 2004 Dec;23(6):505-8. doi: 10.1007/s10067-004-0935-2. Clin Rheumatol. 2004. PMID: 15801069
Buschke-Ollendorff syndrome in a grande multipara: a case report and short review of the literature.
Al Attia HM, Sherif AM. Al Attia HM, et al. Clin Rheumatol. 1998;17(2):172-5. doi: 10.1007/BF01452270. Clin Rheumatol. 1998. PMID: 9641521 Review.
Buschke-Ollendorff syndrome is known generally to have a benign course, a feature that is illustrated in this case, even when associated with the stresses of multiparity. ...
Buschke-Ollendorff syndrome is known generally to have a benign course, a feature that is illustrated in this case, even when associa …
Osteopoikilosis: an important incidental finding.
Hill CE, McKee L. Hill CE, et al. Injury. 2015 Jul;46(7):1403-5. doi: 10.1016/j.injury.2015.02.005. Epub 2015 Feb 11. Injury. 2015. PMID: 25707878 No abstract available.
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.
Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR. Hellemans J, et al. Hum Mutat. 2006 Mar;27(3):290. doi: 10.1002/humu.9403. Hum Mutat. 2006. PMID: 16470551
To further explore the allelic heterogeneity within the group of LEMD3-related disorders, we have screened a larger series of patients including 5 probands with osteopoikilosis or Buschke-Ollendorff syndrome (BOS), 2 families with the co-occurrence of melorheostosis and BOS, and …
To further explore the allelic heterogeneity within the group of LEMD3-related disorders, we have screened a larger series of patients inclu …
13 results