MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive <i>c</i>erebellar, <i>o</i>cular, cranio<i>f</i>acial and <i>g</i>enital features (COFG syndrome)

Abolfazl Rad, Miriam Schmidts, Kolsoum Saeidi et al.|Journal of Medical Genetics|2018

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