Article
ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.
Cell death and differentiation - 1 Dec 2016
Zak J, Vives V, Szumska D, Vernet A, Schneider J E, Miller P, Slee E A, Joss S, Lacassie Y, Chen E, Escobar L F, Tucker M, Aylsworth A S, Dubbs H A, Collins A T, Andrieux J, Dieux-Coeslier A, Haberlandt E, Kotzot D, Scott D A, Parker M J, Zakaria Z, Choy Y S, Wieczorek D, Innes A M, Jun K R, Zinner S, Prin F, Lygate C A, Pretorius P, Rosenfeld J A, Mohun T J, Lu X
Abstract excerpt
Chromosomal abnormalities are implicated in a substantial number of human developmental syndromes, but for many such disorders little is known about the causative genes. The recently described 1q41q42 microdeletion syndrome is characterized by characteristic dysmorphic features, intellectual disability and brain morphological abnormalities, but the precise genetic basis for these abnormalities remains unknown....
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