NOS1 mutations in humans cause hypogonadotropic hypogonadism with sensory and intellectual comorbidities, reversible experimentally by NO treatment at minipuberty

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Authors: Konstantina Chachlaki, Andrea Messina Virginia Delli Valerie Leysen Csilla Maurnyi Chieko Huber Gaëtan Ternier Katalin Skrapits Georgios Papadakis Sonal Shruti Maria Kapanidou Xu Cheng James Acierno Jesse Rademaker Sowmyalakshmi Rasika Richard Quinton Marek Niedziela Dagmar L’allemand Duarte Pignatelli Mirjam Dirlewander Mariarosaria Lang-Muritano Patrick Kempf Sophie Catteau

Journal title: Science Translational Medicine

Journal number: Vol. 14

Journal publisher: American Association for the Advancement of Science

Published year: 2022

Published pages: all

DOI identifier: 10.1126/scitranslmed.abh2369

ISSN: 1946-6234