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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Records Return:
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM24204 | Female | 22 YR | 3116 | proband | SMITH-MAGENIS SYNDROME; SMS | GM |
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