A novel mutation in the MECOM gene causing radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT-2) in an infant.

Authors :: Loganathan A
Munirathnam D
Ravikumar T
Source :: Pediatric blood & cancer [Pediatr Blood Cancer] 2019 Apr; Vol. 66 (4), pp. e27574. Date of Electronic Publication: 2018 Dec 10.
Publication Year :: 2019

Subjects :: Humans
Infant, Newborn
Male
Thrombocytopenia genetics
MDS1 and EVI1 Complex Locus Protein genetics
Mutation
Radius abnormalities
Synostosis genetics
Thrombocytopenia congenital
Ulna abnormalities

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