A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis.
Recent studies have reported loss of function mutations in the LEMD3 gene, encoding an inner nuclear membrane protein that influences Smad signaling, as a cause of osteopoikilosis, Buschke-Ollendorff syndrome, and melorheostosis. We investigated LEMD3 in a three-generation family with osteopoikilosi...
Main Authors: | Couto, A, Bruges-Armas, J, Peach, C, Chapman, K, Brown, M, Wordsworth, B, Zhang, Y |
---|---|
Format: | Journal article |
Language: | English |
Published: |
2007
|
Similar Items
-
Mutations in the gene LEMD3 in patients with osteopoikilosis and melorheostosis - Evidence for genetic heterogeneity
by: Couto, A, et al.
Published: (2006) -
Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.
by: Zhang, Y, et al.
Published: (2009) -
Osteopoikilosis - Spotted bone
by: S S Suresh
Published: (2007-12-01) -
Melorheostosis: A case report
by: Bruno Pereira Alpoim, et al.
Published: (2013-06-01) -
Osteopoikilosis: a case report
by: Behzad Mohsenpour, et al.
Published: (2023-07-01)