التفاصيل البيبلوغرافية
| العنوان: |
Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us? |
| المؤلفون: |
Lukas Plachy, Shenali Anne Amaratunga, Petra Dusatkova, Klara Maratova, Vit Neuman, Lenka Petruzelkova, Dana Zemkova, Barbora Obermannova, Marta Snajderova, Stanislava Kolouskova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova |
| المصدر: |
Frontiers in Endocrinology, Vol 13 (2023) |
| بيانات النشر: |
Frontiers Media S.A., 2023. |
| سنة النشر: |
2023 |
| المجموعة: |
LCC:Diseases of the endocrine glands. Clinical endocrinology |
| مصطلحات موضوعية: |
short stature, growth hormone, growth hormone deficiency, genetics, next-generation sequencing, Diseases of the endocrine glands. Clinical endocrinology, RC648-665 |
| الوصف: |
IntroductionThe growth hormone deficiency (GHD) diagnosis is controversial especially due to low specificity of growth hormone (GH) stimulation tests. It is therefore believed that children diagnosed with GHD form a heterogeneous group with growth disorder frequently independent on GH function. No study evaluating the complex etiology of growth failure in children with diagnosed GHD has been performed thus far.AimsTo discover genetic etiology of short stature in children with diagnosed GHD from families with short stature.MethodsFifty-two children diagnosed with primary GHD and vertically transmitted short stature (height SDS in the child and his/her shorter parent +2 SD), IGF-1 levels |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
1664-2392 |
| Relation: |
https://www.frontiersin.org/articles/10.3389/fendo.2022.1102968/full; https://doaj.org/toc/1664-2392 |
| DOI: |
10.3389/fendo.2022.1102968 |
| URL الوصول: |
https://doaj.org/article/ba3c63a9753a4b61bcbbac47c87a7498 |
| رقم الانضمام: |
edsdoj.ba3c63a9753a4b61bcbbac47c87a7498 |
| قاعدة البيانات: |
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