Publication

Elsea SH, Williams SR, Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways Expert reviews in molecular medicine13:e14 2011
PubMed ID: 21545756

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Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM24204Female22 YR3116probandSMITH-MAGENIS SYNDROME; SMS