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Expanding the phenotypic spectrum of MBOAT7-related intellectual disability

Jacher, JE; Roy, N; Ghaziuddin, M; Innis, JW

Innis, JW (reprint author), D5240 Med Profess Bldg,1500 E Med Ctr Dr, Ann Arbor, MI 48109 USA.

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2019; 180 (7): 483

Abstract

MBOAT7 gene pathogenic variants are a newly discovered and rare cause for intellectual disability, autism spectrum disorder (ASD), seizures, truncal h......

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