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Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review
Prader–Willi syndrome (PWS) is a complex genetic imprinting disorder characterized by childhood obesity, short stature, hypogonadism/hypogenitalism, hypotonia, cognitive impairment, and behavioral problems. Usually PWS occurs sporadically due to the loss of paternally expressed genes on chromosome 1...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6688622/ https://ncbi.nlm.nih.gov/pubmed/29437285 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38627 |
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