Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort-Reference-Cited by-同舟云学术

Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort

Published:2022-01 Issue:1 Volume:24 Page:75-86
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Saeidian Amir Hossein,Youssefian Leila,Huang Jianhe,Touati Andrew,Vahidnezhad Hassan,Kowal Luke,Caffet Matthew,Wurst Tamara,Singh Jagmohan,Snook Adam E.,Ryu Ellen,Fortina Paolo,Terry Sharon F.,Schoenecker Jonathan G.,Uitto Jouni,Li Qiaoli

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference40 articles.

1. Long-term prognosis associated with coronary calcification: observations from a registry of 25,253 patients;Budoff;J Am Coll Cardiol,2007

2. Pseudoxanthoma elasticum as a paradigm of heritable ectopic mineralization disorders: pathomechanisms and treatment development;Li;Am J Pathol,2019

3. Hereditary disorders of cardiovascular calcification;Rutsch;Arterioscler Thromb Vasc Biol,2021

4. Pseudoxanthoma elasticum;Neldner;Clin Dermatol,1988

5. Molecular genetics and modifier genes in pseudoxanthoma elasticum, a heritable multisystem ectopic mineralization disorder;Luo;J Invest Dermatol,2021

Cited by 6 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. Calcification of Joints and Arteries (CALJA) Is a Rare Cause of Arthritis and Lower Limb Ischemia: Case Report and Literature Review;SN Comprehensive Clinical Medicine;2023-05-18

2. Clinical and molecular diagnosis of genodermatoses: Review and perspectives;Journal of the European Academy of Dermatology and Venereology;2022-12-11

3. The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals;Human Mutation;2022-11-15

4. Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma;Human Mutation;2022-05-18

5. ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification;PLOS Genetics;2022-04-28