Babiker, Amir; Al Noaim, Khalid; Al Swaid, Abdulrahman; Alfadhel, Majid; Deeb, Asma; Martín Rivada, Álvaro; Barrios, Vicente; Pérez Jurado, Luis Alberto; Alfares, Ahmed; Al Alwan, Ibrahim; Argente, Jesús
(Wiley, 2021)
In 2016 a new syndrome with postnatal short stature and low IGF1 bioavailability caused by biallelic loss-of-function mutations in the gene encoding the metalloproteinase pregnancy-associated plasma protein A2 (PAPP-A2) ...