Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families

• Main Authors: Liwei Sun (Author), Amjad Khan (Author), Han Zhang (Author), Shirui Han (Author), Xiaerbati Habulieti (Author), Rongrong Wang (Author), Xue Zhang (Author)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2020-12-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

A homozygous in-frame deletion (c. 758_778del; p. Glu253_Ala259del) in membrane-bound O-acyltransferase family member 7 (MBOAT7), also known as lysophosphatidylinositol acyltransferase (LPIAT1), was previously reported to be the genetic cause of intellectual disability (ID) in consanguineous familie...