Associated Papers
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant.
Korman B et al.
Case Reports in Dermatological Medicine, 2016
Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.
Zhang Y et al.
Clinical Genetics, 2009
Buschke-Ollendorff syndrome: a manifestation of a heterozygous nonsense mutation in the LEMD3 gene.
Gass JK et al.
Journal of the American Academy of Dermatology, 2008
Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis.
Mumm S et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2007
Familial cutaneous collagenomas resulting from a novel mutation in LEMD3.
Hershkovitz D et al.
The British Journal of Dermatology, 2007
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.
Hellemans J et al.
Human Mutation, 2006
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