| 概要 |
Congenital myelofibrosis with anemia, neutropenia, developmental delay, and ocular abnormalities (MFANDO) is a rare syndromic congenital myelofibrosis caused by mutations in RBSN. RBSN encodes rabenosyn, a conserved endosomal protein necessary for regulating internalized cargo.
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| 著者 |
Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Hernandez PP, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LM |
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