Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs

Human molecular genetics

Roy Jung, Yejin Lee, Douglas Barker, …, Marcy E MacDonald, James F Gusella, Ihn Sik Seong

• DOI: 10.1093/hmg/ddaa283
• PMID: 33432339
• PMCID: PMC8248964