A Homozygous Mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly

Srour M, Hamdan FF, Gan-Or Z, Labuda D, Nassif C, Oskoui M, Gana-Weisz M, Orr-Urtreger A7, Rouleau GA and Michaud JL. A Homozygous Mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. Clinical Genetics. 2015. PubMed