Pulmonary affection of patients with Pseudoxanthoma elasticum: Long-term development and genotype-phenotype-correlation-Reference-Cited by-同舟云学术

Pulmonary affection of patients with Pseudoxanthoma elasticum: Long-term development and genotype-phenotype-correlation

Published:2022-02-28 Issue:1 Volume:11 Page:7-14
ISSN:2186-361X
Container-title:Intractable & Rare Diseases Research
language:en
Short-container-title:IRDR

Author:

Stumpf Max Jonathan¹,Schaefer Christian Alexander¹,Mahn Thorsten¹,Wolf Anna Elisabeth¹,Biener Leonie¹,Hendig Doris²,Nickenig Georg¹,Schahab Nadjib¹,Pizarro Carmen¹,Skowasch Dirk¹

Affiliation:

1. Department of Internal Medicine II, Cardiology, Pneumology and Angiology, University Hospital Bonn, Bonn, Germany.

2. Institute for Laboratory and Transfusion Medicine, Heart and Diabetes Centre North Rhine Westphalia, University Hospital of the Ruhr University Bochum, Bad Oeynhausen, Germany.

Publisher

International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/irdr/11/1/11_2021.01162/_pdf

Reference33 articles.

1. 1. Neldner KH. Pseudoxanthoma elasticum. Int J Dermatol. 1988; 27:98-100.

2. 2. Uitto J, Li Q, Jiang Q. Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms. J Invest Dermatol. 2010; 130:661-670.

3. 3. Jiang Q, Endo M, Dibra F, Wang K, Uitto J. Pseudoxanthoma elasticum is a metabolic disease. J Invest Dermatol. 2009; 129:348-354.

4. 4. Kranenburg G, Baas AF, de Jong PA, Asselbergs FW, Visseren FLJ, Spiering W; SMART study-group. The prevalence of pseudoxanthoma elasticum: Revised estimations based on genotyping in a high vascular risk cohort. Eur J Med Genet. 2019; 62:90-92.

5. 5. Struk B, Neldner KH, Rao VS, St Jean P, Lindpaintner K. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Hum Mol Genet. 1997; 6:1823-1828.

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