Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

Prader–Willi syndrome (PWS) is a neurobehavioral disorder manifested by infantile hypotonia and feeding difficulties in infancy, followed by morbid obesity secondary to hyperphagia. It is caused by deficiency of paternally expressed transcript(s) within the human chromosome region 15q11.2. PWS patie...

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Main Authors: Duker, Angela L, Ballif, Blake C, Bawle, Erawati V, Person, Richard E, Mahadevan, Sangeetha, Alliman, Sarah, Thompson, Regina, Traylor, Ryan, Bejjani, Bassem A, Shaffer, Lisa G, Rosenfeld, Jill A, Lamb, Allen N, Sahoo, Trilochan
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987474/
https://ncbi.nlm.nih.gov/pubmed/20588305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.102
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