Publication: A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy
Abstract
Description
Keywords
Tıp, Dahili Tıp Bilimleri, Çocuk Sağlığı ve Hastalıkları, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, Sağlık Bilimleri, Medicine, Internal Medicine Sciences, Child Health and Diseases, Internal Diseases, Endocrinology and Metabolic Diseases, Health Sciences, ENDOKRİNOLOJİ VE METABOLİZMA, Klinik Tıp, Klinik Tıp (MED), PEDİATRİ, ENDOCRINOLOGY & METABOLISM, CLINICAL MEDICINE, Clinical Medicine (MED), PEDIATRICS, Pediatri, Endokrin ve Otonom Sistemler, Pediatri, Perinatoloji ve Çocuk Sağlığı, Endokrinoloji, Diyabet ve Metabolizma, Endokrinoloji, Yaşam Bilimleri, Pediatrics, Endocrine and Autonomic Systems, Pediatrics, Perinatology and Child Health, Endocrinology, Diabetes and Metabolism, Endocrinology, Life Sciences
Citation
Bezen D., Kutlu O., Mouilleron S., Rizzoti K., Dattani M., GÜRAN T., Yesil G., "A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy", HORMONE RESEARCH IN PAEDIATRICS, cilt.95, sa.SUPPL 2, ss.352-353, 2022