Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s10038-020-00871-0.pdf
Reference41 articles.
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2. Maroteaux P, Martinelli B, Campailla E. Acromesomelic dwarfism. Presse Med. 1971;79:1839–42.
3. Jurgen W Spranger PWB, Christine Hal, Gen Nishimura, Andrea Superti-Furga, Sheila Unger. Bone dysplasias an atlas of genetic disorders of skeletal development, Fourth Edition. New York: Oxford University Press; 2018.
4. Bartels CF, Bukulmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, et al. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet. 2004;75:27–34.
5. Potter LR, Hunter T. Identification and characterization of the phosphorylation sites of the guanylyl cyclase-linked natriuretic peptide receptors A and B. Methods. 1999;19:506–20.
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