Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature

OBJECTIVE: SHOX gene mutations constitute one of the genetic causes of short stature. The clinical phenotype includes variable degrees of growth impairment, such as Langer mesomelic dysplasia (LMD), Léri-Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS). The aim of this study was to de...

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Detaylı Bibliyografya
Yayımlandı:J Clin Res Pediatr Endocrinol
Asıl Yazarlar: Gürsoy, Semra, Hazan, Filiz, Aykut, Ayça, Nalbantoğlu, Özlem, Korkmaz, Hüseyin Anıl, Demir, Korcan, Özkan, Behzat, Çoğulu, Özgür
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Galenos Publishing 2020
Konular:
Original Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7711637/
https://ncbi.nlm.nih.gov/pubmed/32295321
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.galenos.2020.2019.0001
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