A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants
Author:
Publisher
Elsevier BV
Subject
Radiology, Nuclear Medicine and imaging
Reference9 articles.
1. Acromesomelic dysplasia;Langer;Radiology,1980
2. Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux;Ain;Eur J Med Genet,2019
3. Genetics of human isolated acromesomelic dysplasia;Khan;Eur J Med Genet,2016
4. Acromesomelic dysplasia, type maroteaux: impact of long-term (8 years) high-dose growth hormone treatment on growth velocity and final height in 2 siblings;Arya;Horm Res Paediatr,2020
5. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux;Bartels;Am J Hum Genet,2004
Cited by 2 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. Anaesthetic challenges in a patient with acromesomelic dysplasia posted for vitreoretinal surgery - A case study;Indian Journal of Anaesthesia;2023-11
2. Acromesomelic Dysplasia I, Maroteaux Type (AMD1);Genetic Syndromes;2023
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