Conference Proceedings

DE NOVO HETEROZYGOUS MISSENSE MUTATIONS IN DDB1 CAUSE A NOVEL DISORDER OF TRANSCRIPTIONAL REGULATION MANIFESTING AS HYPOTONIA, INTELLECTUAL DISABILITY AND DYSMORPHIC FEATURES

Susan M White, Elizabeth Bhoj, Kym Boycott, Taila Hartley, Simon Sadedin, undefined Broad, Dong Li, Jaime Barea, Paul Lockhart, Marjan Nezarati, Kristin Kernohan

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WILEY | Published : 2018