Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature | Zendy

Kenan Delil | Zendy; Halil Gürhan Karabulut | Zendy; Bülent Hacıhamdioğlu | Zendy; Zeynep Şıklar | Zendy; Merih Berberoğlu | Zendy; Gönül Öçal | Zendy; Ajlan Tükün | Zendy; Hatice Ilgın Ruhi | Zendy

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Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature

Author(s) -

Kenan Delil,

Halil Gürhan Karabulut,

Bülent Hacıhamdioğlu,

Zeynep Şıklar,

Merih Berberoğlu,

Gönül Öçal,

Ajlan Tükün,

Hatice Ilgın Ruhi

Publication year - 2016

Publication title -

journal of clinical research in pediatric endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.566

H-Index - 35

eISSN - 1308-5735

pISSN - 1308-5727

DOI - 10.4274/jcrpe.2307

Subject(s) - short stature , sanger sequencing , genetics , idiopathic short stature , mutation , point mutation , medicine , gene mutation , gene , biology , growth hormone , hormone

The frequency of mutations in the short stature homeobox (SHOX) gene in patients with idiopathic short stature (ISS) ranges widely, depending mostly on the mutation detection technique and inclusion criteria. We present phenotypic and genotypic data on 38 Turkish patients with ISS and the distinctive features of 1 patient with a SHOX deletion.

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