Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations

Bianca Tesi, Samuel C.C. Chiang, Dalia El-Ghoneimy, Ayad Ahmed Hussein, Cecilia Langenskiöld, Rabia Wali, Zehra Fadoo, João Pinho Silva, Ramón Lecumberri, Sule Unal, Magnus Nordenskjöld, Yenan T. Bryceson, Jan Inge Henter, Marie Meeths

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27 Citations (Scopus)

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology