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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...

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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

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