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Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9 , and including KCNJ2 and KCNJ16
Castori, Marco, Bottillo, Irene, Morlino, Silvia, Barone, Chiara, Cascone, Piero, Grammatico, Paola, Laino, LuigiVolume:
106
Language:
english
Journal:
Birth Defects Research Part A: Clinical and Molecular Teratology
DOI:
10.1002/bdra.23463
Date:
January, 2016
File:
PDF, 469 KB
english, 2016