Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region

@article{Jiang2007GenomicAO,
  title={Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region},
  author={Yong-hui Jiang and Kekio Wauki and Qian Liu and Jan Bressler and Yanzhen Pan and Catherine D. Kashork and Lisa Gail Shaffer and Arthur L Beaudet},
  journal={BMC Genomics},
  year={2007},
  volume={9},
  pages={50 - 50}
}
Prader-Willi syndrome (PWS) is a neurobehavioral disorder characterized by neonatal hypotonia, childhood obesity, dysmorphic features, hypogonadism, mental retardation, and behavioral problems. Although PWS is most often caused by a paternal interstitial deletion of a 6-Mb region of chromosome 15q11-q13, the identity of the exact protein coding or noncoding RNAs whose deficiency produces the PWS phenotype is uncertain. There are also reports describing a PWS-like phenotype in a subset of… CONTINUE READING

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