ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

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 disabil...

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Detalhes bibliográficos
Publicado no:Cell Death Differ
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Original Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5136487/
https://ncbi.nlm.nih.gov/pubmed/27447114
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/cdd.2016.76
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