A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability.
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DOI: 10.1016/j.ejmg.2020.103969
Abstract: We describe a three year old female who underwent clinical exome sequencing and was diagnosed with BCL11A-related intellectual disability/Dias-Logan syndrome due to a de novo, heterozygous variant in the BCL11A gene, NM_018014.3:c.148C > T; p.(Gln50*). A missense… read more here.
Keywords: intellectual disability; related intellectual; missense variant; secondary finding ... See more keywords