Publications by authors named "Bilge Sarikepe"
Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings.
J Clin Res Pediatr Endocrinol
September 2017
Congenital central hypothyroidism (CCH) is a very rare disease. Alterations in pituitary development genes as well as mutations of immunoglobulin superfamily member 1 and transducin β-like protein 1 can result in CCH and multiple pituitary hormone deficiencies. However, mutations of the thyrotropin-releasing hormone receptor or thyroid-stimulating hormone-beta (TSHB) gene are responsible for isolated CCH.
View Article and Find Full Text PDFArticle Synopsis
- Osteogenesis imperfecta (OI) is a genetic bone disorder leading to frequent fractures, with most cases linked to specific gene mutations, predominantly inherited in an autosomal dominant manner.
- Recent studies have found a wider range of genes associated with sporadic and familial cases of OI, particularly among offspring of unaffected or consanguineous parents.
- The research highlights the importance of thorough genetic analysis, revealing not only common mutations but also rare variants linked to other conditions, aiding in the clinical diagnosis and understanding of OI's genetic complexity.