Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients’ management using bisphosphonates therapy-Reference-Cited by-同舟云学术

Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients’ management using bisphosphonates therapy

Published:2022-02-01 Issue:7 Volume:33 Page:1501-1510
ISSN:0937-941X
Container-title:Osteoporosis International
language:en
Short-container-title:Osteoporos Int

Author:

Abdel-Hamid Mohamed S.^ORCID,Elhossini Rasha M.,Otaify Ghada A.,Abdel-Ghafar Sherif F.,Aglan Mona S.

Funder

Science and Technology Development Fund

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology, Diabetes and Metabolism

Link

https://link.springer.com/content/pdf/10.1007/s00198-022-06313-1.pdf

Reference29 articles.

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2. Beighton P (1986) Osteoporosis-pseudoglioma syndrome. Clin Genet 29:263. https://doi.org/10.1111/j.1399-0004.1986.tb00823.x

3. Somer H, Palotie A, Somer M et al (1988) Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies. J Med Genet 25(8):543–549. https://doi.org/10.1136/jmg.25.8.543

4. Lev D, Binson I, Foldes AJ et al (2003) Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome. Isr Med Assoc 5:419–421

5. Narumi S, Numakura C, Shiihara T et al (2010) Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray. Am J Med Genet A 152A(1):133–140. https://doi.org/10.1002/ajmg.a.33177

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