Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder

B. Abu-Libdeh,Hagar Mor-Shaked,A. Atawna,D. Gillis,Orli Halstuk,Nava Shaul-Lotan,M. Slae,M. Sultan,V. Meiner,O. Elpeleg,T. Harel

Published 2021 in European Journal of Human Genetics

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