Loss of Function of FAM177A1, a Golgi Complex Localized Protein, Causes a Novel Neurodevelopmental Disorder.
Jennefer N. Kohler,Nicole R. Legro,Dustin Baldridge,Jimann Shin, Angela Bowman,Berrak Ugur,Madelyn M. Jackstadt,Leah P. Shriver,Gary J. Patti,Bo Zhang,Wenjia Feng,Anthony R. McAdow,Page Goddard,Rachel A. Ungar,Tanner Jensen,Kevin S. Smith,Laure Fresard, Raquel Alvarez,Devon Bonner,Chloe M. Reuter,Colleen McCormack,Elijah Kravets,Shruti Marwaha,James M. Holt,Elizabeth A. Worthey,Euan A. Ashley,Stephen B. Montgomery,Paul G. Fisher,John Postlethwait,Pietro De Camilli,Lila Solnica-Krezel,Jonathan A. Bernstein,Matthew T. Wheeler GENETICS IN MEDICINE(2024)
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Developmental Delay,Macrocephaly,Neurodevelopment,Zebra fi sh
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