Biallelic TTI1 pathogenic variants cause a microcephalic neurodevelopmental disorder
Margaux Serey-Gaut, George K. Essien-Umanah,Periklis Makrythanasis,Mohnish Suri,Alexander M. Taylor,Jennifer Sullivan,Vandana Shashi, Xiaofeng Song,Jill A. Rosenfeld,Christelle Cabrol,Davut Pehlivan,Zeynep Coban Akdemir,Bilgen B. Geckinli,Jacqueline Eason,Rani Sachdev,Carey-Anne Evans,Michael Buckley,Cheng Yee Nixon,Juliette Piard, Toni Roscioli,James R. Lupski,Stylianos E. Antonarakis,Valina Dawson,Ted Dawson,Lionel Van Maldergem EUROPEAN JOURNAL OF HUMAN GENETICS(2022)
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