A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis
Author:
Funder
Seventh Framework Programme
University of Antwerp
Publisher
Elsevier BV
Subject
Histology,Physiology,Endocrinology, Diabetes and Metabolism
Reference30 articles.
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2. CT analysis of anatomical distribution of melorheostosis challenges the sclerotome hypothesis;Jha;Bone,2018
3. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis;Hellemans;Nat. Genet.,2004
4. Melorheostosis in a patient with familial osteopoikilosis;Butkus;Am. J. Med. Genet.,1997
5. Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis;Hellemans;Hum. Mutat.,2006
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