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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Sun, Liwei, Khan, Amjad, Zhang, Han, Han, Shirui, Habulieti, Xiaerbati, Wang, Rongrong, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7736038/
https://www.ncbi.nlm.nih.gov/pubmed/33335874
http://dx.doi.org/10.3389/fped.2020.585053

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7736038/
https://www.ncbi.nlm.nih.gov/pubmed/33335874
http://dx.doi.org/10.3389/fped.2020.585053

Ejemplares similares