Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene

Because the causes of combined pituitary hormone deficiency (CPHD) are complex, the etiology of congenital CPHD remains unknown in most cases. The aim of the study was to identify the genetic etiology of CPHD in a well-defined single-center cohort. In total, 34 children (12 girls) with congenital CP...

وصف كامل

التفاصيل البيبلوغرافية

الحاوية / القاعدة:	Endocrine Connections
المؤلفون الرئيسيون:	Lukas Plachy, Petra Dusatkova, Klara Maratova, Shenali Anne Amaratunga, Dana Zemkova, Vit Neuman, Stanislava Kolouskova, Barbora Obermannova, Marta Snajderova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	Bioscientifica 2024-08-01
الموضوعات:	combined pituitary hormone deficiency genetics of short stature growth hormone deficiency nextgeneration sequencing short stature
الوصول للمادة أونلاين:	https://ec.bioscientifica.com/view/journals/ec/13/10/EC-24-0217.xml