A new LRP6 variant and Camurati-Engelmann-like disease
Author:
Publisher
Elsevier BV
Subject
Histology,Physiology,Endocrinology, Diabetes and Metabolism
Reference26 articles.
1. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment;Janssens;J. Med. Genet.,2006
2. Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3;Ghadami;Am. J. Hum. Genet.,2000
3. Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13;Janssens;J. Med. Genet.,2000
4. Confirmation of the mapping of the Camurati-Englemann locus to 19q13. 2 and refinement to a 3.2-cM region;Vaughn;Genomics,2000
5. LRP receptor family member associated bone disease;Lara-Castillo;Rev. Endocr. Metab. Disord.,2015
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report;Clinical Genetics;2024-02-22
2. LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low‐Density Lipoprotein Receptor‐Related Protein 6;JBMR Plus;2023-03-02
3. An LRP6 mutation (Arg360His) associated with low bone mineral density but not cardiovascular events in a Caucasian family;Osteoporosis International;2022-07-15
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