Yıl: 2020 Cilt: 12 Sayı: 1 Sayfa Aralığı: 122 - 123 Metin Dili: İngilizce DOI: 10.4274/jcrpe.galenos.2019.2019.0090 İndeks Tarihi: 13-10-2020

An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs

Öz:
-
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Editöre Mektup Erişim Türü: Erişime Açık
  • 1. Irfanullah, Umair M, Khan S, Ahmad W. Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families. Ann Hum Genet 2015;79:238- 244. Epub 2015 May 11
  • 2. Vasques GA, Amano N, Docko AJ, Funari MF, Quedas EP, Nishi MY, Arnhold IJ, Hasegawa T, Jorge AA. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature. J Clin Endocrinol Metab 2013;98:1636-1644. Epub 2013 Sep 3
  • 3. Tran TH, Cao MH, Luong LH, Le PT, Vu DC, Ta TD, Bui TH, Nguyen DH, Van Ta T, Tran VK. Acromesomelic dysplasia Maroteaux-type in patients from Vietnam. Am J Med Genet A 2019;179:1420-1422. Epub 2019 May 11
  • 4. Yamamoto K, Kawai M, Yamazaki M, Tachikawa K, Kubota T, Ozono K, Michigami T. CREB activation in hypertrophic chondrocytes is involved in the skeletal overgrowth in epiphyseal chondrodysplasia Miura type caused by activating mutations of natriuretic peptide receptor B. Hum Mol Genet 2019;28:1183-1198.
  • 5. Naki MM, Gür D, Zemheri E, Tekcan C, Kanadikirik F, Has R. Short ribpolydactyly syndrome. Arch Gynecol Obstet 2005;272:173-175. Epub 2004 Dec 17
APA MORAVEJ H, Moghtaderi M, MOSTAFAVI S (2020). An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs. , 122 - 123. 10.4274/jcrpe.galenos.2019.2019.0090
Chicago MORAVEJ Hossein,Moghtaderi Mozhgan,MOSTAFAVI Sara An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs. (2020): 122 - 123. 10.4274/jcrpe.galenos.2019.2019.0090
MLA MORAVEJ Hossein,Moghtaderi Mozhgan,MOSTAFAVI Sara An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs. , 2020, ss.122 - 123. 10.4274/jcrpe.galenos.2019.2019.0090
AMA MORAVEJ H,Moghtaderi M,MOSTAFAVI S An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs. . 2020; 122 - 123. 10.4274/jcrpe.galenos.2019.2019.0090
Vancouver MORAVEJ H,Moghtaderi M,MOSTAFAVI S An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs. . 2020; 122 - 123. 10.4274/jcrpe.galenos.2019.2019.0090
IEEE MORAVEJ H,Moghtaderi M,MOSTAFAVI S "An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs." , ss.122 - 123, 2020. 10.4274/jcrpe.galenos.2019.2019.0090
ISNAD MORAVEJ, Hossein vd. "An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs". (2020), 122-123. https://doi.org/10.4274/jcrpe.galenos.2019.2019.0090
APA MORAVEJ H, Moghtaderi M, MOSTAFAVI S (2020). An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs. Journal of Clinical Research in Pediatric Endocrinology, 12(1), 122 - 123. 10.4274/jcrpe.galenos.2019.2019.0090
Chicago MORAVEJ Hossein,Moghtaderi Mozhgan,MOSTAFAVI Sara An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs. Journal of Clinical Research in Pediatric Endocrinology 12, no.1 (2020): 122 - 123. 10.4274/jcrpe.galenos.2019.2019.0090
MLA MORAVEJ Hossein,Moghtaderi Mozhgan,MOSTAFAVI Sara An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs. Journal of Clinical Research in Pediatric Endocrinology, vol.12, no.1, 2020, ss.122 - 123. 10.4274/jcrpe.galenos.2019.2019.0090
AMA MORAVEJ H,Moghtaderi M,MOSTAFAVI S An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs. Journal of Clinical Research in Pediatric Endocrinology. 2020; 12(1): 122 - 123. 10.4274/jcrpe.galenos.2019.2019.0090
Vancouver MORAVEJ H,Moghtaderi M,MOSTAFAVI S An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs. Journal of Clinical Research in Pediatric Endocrinology. 2020; 12(1): 122 - 123. 10.4274/jcrpe.galenos.2019.2019.0090
IEEE MORAVEJ H,Moghtaderi M,MOSTAFAVI S "An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs." Journal of Clinical Research in Pediatric Endocrinology, 12, ss.122 - 123, 2020. 10.4274/jcrpe.galenos.2019.2019.0090
ISNAD MORAVEJ, Hossein vd. "An Iranian Patient with Maroteaux Type Acromesomelic Dysplasia, Showing no Involvement of Distal Lower Limbs". Journal of Clinical Research in Pediatric Endocrinology 12/1 (2020), 122-123. https://doi.org/10.4274/jcrpe.galenos.2019.2019.0090