Mutations in the gene LEMD3 in patients with osteopoikilosis and melorheostosis - Evidence for genetic heterogeneity

Eitemau Tebyg

• A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis.
  gan: Couto, A, et al.
  Cyhoeddwyd: (2007)
• Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.
  gan: Zhang, Y, et al.
  Cyhoeddwyd: (2009)
• A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis
  gan: Selin Elmaoğulları, et al.
  Cyhoeddwyd: (2019-08-01)
• Osteopoikilosis and multiple exostoses caused by novel mutations in <it>LEMD3 </it>and <it>EXT1 </it>genes respectively - coincidence within one family
  gan: Horn Denise, et al.
  Cyhoeddwyd: (2010-07-01)
• Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant
  gan: Benjamin Korman, et al.
  Cyhoeddwyd: (2016-01-01)