Article

Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2026

Galassi Deforie Valentina, Maroofian Reza, Karagoz Irem, Godwin Annie, Al Sheikh Ebtehal, Gestri Gaia, Zaki Maha S, Woodward Beth L, Ghorab Raghda M, Alvi Javeria Raza, Alabdi Lama, Damseh Nadirah, Elshafie Reem M, Scardamaglia Annarita, Alves Cesar, Shaikh Mahum, Özcan Güliz Gürel, Sadek Abdelrahim A, Issa Mahmoud Y, Striano Pasquale, Suri Mohnish, Murphy David, Ashhab Motee, de la Fuente Rubén Pérez, Arteche-López Ana, Hashem Mais O, Abdulwahab Firdous, Aboelanine Ashraf H, Alkhawaja Issam Azmi, Ibrahim Shahnaz, van der Burg Mirjam, Berghuis Dagmar, Santen Gijs We, Toosi Mehran Beiraghi, Alerasool Masoome, Eslahi Atieh, Srinivasan Varunvenkat M, Gowda Vykuntaraju K, Trollmann Regina, Vasileiou Georgia, Pauly Melissa, Hashemi-Gorji Farzad, Miryounesi Mohammad, Salpietro Vincenzo, Al-Herz Waleed, Carter Stephen P, Briggs Tracy A, Hussell Tracy, Ruuska-Loewald Terhi, Komulainen-Ebrahim Jonna, Uusimaa Johanna, Hautala Timo, Potluri Sandeep, Shackley Fiona, Mojarrad Majid, Chung Wendy K, Wilson Stephen W, Sultan Tipu, Gleeson Joseph G, Marafi Dana, Alkuraya Fowzan S, Stewart Grant S, Efthymiou Stephanie, Guille Matthew, Arkwright Peter D, Houlden Henry