Article
A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy.
Hormone research in paediatrics - 1 Jan 2024
Yavas Abali Zehra, Gokpinar Ili Ezgi, Bas Firdevs, Ulak Ozkan Melis, Gulec Çagrı, Toksoy Guven, Ozturk Ayşe Pinar, Karakilic Ozturan Esin, Aslanger Ayça, Caliskan Mine, Yesil Gozde, Poyrazoglu Sukran, Darendeliler Feyza, Oya Uyguner Zehra
Abstract excerpt
INTRODUCTION: Pathogenic biallelic RNPC3 variants cause congenital hypopituitarism (CH) with congenital cataracts, neuropathy, developmental delay/intellectual disability, primary ovarian insufficiency, and pituitary hypoplasia. Here, we aimed to evaluate the clinical and molecular characteristics of 2 patients with CH and neuropathy. MATERIALS AND METHODS: Proband was evaluated by clinical, laboratory, and...
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