https://www.selleckchem.com/pr....oducts/Etopophos.htm
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_018014.3c.148C T; p.(Gln50*). A missense variant in MC4R, NM_005912.3c.806T A; p.(Ile269Asn), was also reported as a secondary finding. In her family, her father, paternal aunt, and paternal uncle were all reported to have height and weight measurements suggestive of Class 3 obesity with BMI40 kg/m2. The
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