Mutations in RAI1 associated with Smith–Magenis syndrome
✍ Scribed by Slager, Rebecca E.; Newton, Tiffany Lynn; Vlangos, Christopher N.; Finucane, Brenda; Elsea, Sarah H.
- Book ID
- 109918475
- Publisher
- Nature Publishing Group
- Year
- 2003
- Tongue
- English
- Weight
- 265 KB
- Volume
- 33
- Category
- Article
- ISSN
- 1061-4036
- DOI
- 10.1038/ng1126
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## Abstract Smith–Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by distinct craniofacial features and neurobehavioral abnormalities usually associated with an interstitial deletion in 17p11.2. Heterozygous point mutations in the retinoic acid in
We used probes from the juxtacentromeric region of the chromosome 17 short arm to map three microdeletions in patients with Smith-Magenis syndrome. The common clinical findings were: speech delay with behavioural problems associated with broad flat midface, brachycephaly, broad nasal bridge and brac