Clinical Characteristics and Genotype-Phenotype Correlation in the Patients with the Diagnosis of Resistance to Thyroid Hormone Beta.

Autor: Büyükyılmaz G; Department of Pediatric Endocrinology, Ankara Bilkent City Hospital, Ankara, Türkiye., Çavdarlı B; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Türkiye., Koca SB; Health Sciences University, Kayseri City Hospital, Department of Pediatrics, Division of Pediatric Endocrinology, Kayseri, Türkiye., Toksoy Adıgüzel K; Department of Pediatric Endocrinology, Dr. Burhan Nalbantoğlu State Hospital, Nicosia, Northern Cyprus., Topaloğlu O; Department of Endocrinology and Metabolism, Ankara Yildirim Beyazit University Faculty of Medicine, Ankara Bilkent City Hospital, Ankara, Türkiye., Aydın C; Department of Endocrinology and Metabolism, Ankara Yildirim Beyazit University Faculty of Medicine, Ankara Bilkent City Hospital, Ankara, Türkiye., Hepsen S; Department of Endocrinology and Metabolism, Etlik City Hospital, Ankara, Türkiye., Çakal E; Department of Endocrinology and Metabolism, Etlik City Hospital, Ankara, Türkiye., Semerci Gündüz N; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Türkiye., Boyraz M; Department of Pediatric Endocrinology, Ankara Bilkent City Hospital, Ankara, Türkiye., Gürbüz F; Department of Pediatric Endocrinology, Ankara Bilkent City Hospital, Ankara, Türkiye., Demirbilek H; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Türkiye.

Publikováno v: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Dec 23. Date of Electronic Publication: 2024 Dec 23.

Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings

Autor: Özhan B, Boz Anlaş Ö, Sarıkepe B, Albuz B, Semerci Gündüz N

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 d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3566::e9160759d9f69959fe1c99f9708a9d09

Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHβ.

Autor: Ebrhim, Reham S., Bruellman, Ryan J., Watanabe, Yui, Creech, Matthew K., Abdullah, Mohamed A., Dumitrescu, Alexandra M., Refetoff, Samuel, Weiss, Roy E.

Publikováno v: Hormone Research in Paediatrics; 2019, Vol. 92 Issue 6, p390-394, 5p, 2 Graphs