Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://link.springer.com/content/pdf/10.1007/s12041-016-0715-1.pdf
Reference13 articles.
1. Amano N., Mukai T., Ito Y., Narumi S., Tanaka T., Yokoya S. et al. 2014 Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature. J. Clin. Endocrinol. Metab. 99, E713–E718.
2. Bartels C. F., Bükülmez H., Padayatti P., Rhee D. K., van Ravenswaaij-Arts C., Pauli R. M. et al. 2004 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am. J. Hum. Genet. 75, 27–34.
3. Borrelli P., Fasanelli S. and Marini R. 1983 Acromesomelic dwarfism in a child with an interesting family history. Pediatr. Radiol. 13, 165–168.
4. Hisado-Oliva A., Garre-Vázquez A. I., Santaolalla-Caballero F., Belinchón A., Barreda-Bonis A. C., Vasques G. A. et al. 2015 Heterozygous NPR2 mutations cause disproportionate short stature, similar to Léri–Weill dyschondrosteosis. J. Clin. Endocrinol. Metab. 100, E1133–E1142.
5. Irfanullah U. M., Khan S. and Ahmad W. 2015 Homozygous sequence variants in the NPR2 gene underlying acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families. Ann. Hum. Genet. 79, 238–244.
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2. NPR2 gene variants in familial short stature: a single-center study;Journal of Pediatric Endocrinology and Metabolism;2021-09-27
3. Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience;Journal of Human Genetics;2020-12-07
4. Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux;European Journal of Medical Genetics;2019-09
5. Nueva variante patogénica en el gen NPR2: etiología de talla baja, macrocefalia y displasia ósea en varón afectado de displasia acromesomélica tipo Maroteaux;Medicina Clínica;2017-12
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