Yıl: 2020 Cilt: 28 Sayı: 4 Sayfa Aralığı: 288 - 291 Metin Dili: İngilizce DOI: 10.5336/caserep.2020-75862 İndeks Tarihi: 27-06-2021

The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation

Öz:
The skeletal dysplasias are rare and extremely heterogeneous group of developmental abnormalities. The genetic etiology of approximately 500 skeletal diseases has been identified, and molecular mechanism of all the remaining dysplasias is unclear. Recently, identification of numerous genes implicated in genetic disorders helped in the understanding of the pathophysiology of various conditions. Skeletaldysplasias are considered as good models to illustrate these scientific advances. Further advances had allowed new therapeutic approaches forseveral conditions, whether they are targeted to specific genes,gene products, or pathways and processes that are altered by the gene mutations. Here we report the first turkish family with lower limb anomalies and NPR2 gene mutations.
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
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APA RANDA N (2020). The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation. , 288 - 291. 10.5336/caserep.2020-75862
Chicago RANDA Nadide Cemre The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation. (2020): 288 - 291. 10.5336/caserep.2020-75862
MLA RANDA Nadide Cemre The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation. , 2020, ss.288 - 291. 10.5336/caserep.2020-75862
AMA RANDA N The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation. . 2020; 288 - 291. 10.5336/caserep.2020-75862
Vancouver RANDA N The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation. . 2020; 288 - 291. 10.5336/caserep.2020-75862
IEEE RANDA N "The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation." , ss.288 - 291, 2020. 10.5336/caserep.2020-75862
ISNAD RANDA, Nadide Cemre. "The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation". (2020), 288-291. https://doi.org/10.5336/caserep.2020-75862
APA RANDA N (2020). The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation. Türkiye Klinikleri Journal of Case Reports, 28(4), 288 - 291. 10.5336/caserep.2020-75862
Chicago RANDA Nadide Cemre The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation. Türkiye Klinikleri Journal of Case Reports 28, no.4 (2020): 288 - 291. 10.5336/caserep.2020-75862
MLA RANDA Nadide Cemre The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation. Türkiye Klinikleri Journal of Case Reports, vol.28, no.4, 2020, ss.288 - 291. 10.5336/caserep.2020-75862
AMA RANDA N The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation. Türkiye Klinikleri Journal of Case Reports. 2020; 28(4): 288 - 291. 10.5336/caserep.2020-75862
Vancouver RANDA N The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation. Türkiye Klinikleri Journal of Case Reports. 2020; 28(4): 288 - 291. 10.5336/caserep.2020-75862
IEEE RANDA N "The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation." Türkiye Klinikleri Journal of Case Reports, 28, ss.288 - 291, 2020. 10.5336/caserep.2020-75862
ISNAD RANDA, Nadide Cemre. "The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation". Türkiye Klinikleri Journal of Case Reports 28/4 (2020), 288-291. https://doi.org/10.5336/caserep.2020-75862