BRPF1 ‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

ConclusionThe reported family contributes to the current knowledge regarding this unique and newly recognized genetic disorder, and further implicates the role ofBRPF1 in human brain development.

Source: Molecular Genetics & Genomic Medicine - April 23, 2019 Category: Genetics & Stem Cells Authors: Naomi Pode ‐Shakked, Ortal Barel, Ben Pode‐Shakked, Aviva Eliyahu, Amihood Singer, Omri Nayshool, Nitzan Kol, Annick Raas‐Rothschild, Elon Pras, Mordechai Shohat Tags: ORIGINAL ARTICLE Source Type: research