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Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

Loss-of-function mutations of the KAL1 gene are a known cause of Kallmann syndrome, a disorder characterized by the coexistence of hypogonadotropic hypogonadism and anosmia/hiposmia. On the other hand, neither complete nor partial duplications of KAL1 have been reported in the literature; thus, clin...

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Detalhes bibliográficos
Publicado no:J Appl Genet
Main Authors: Sowińska-Seidler, Anna, Piwecka, Monika, Olech, Ewelina, Socha, Magdalena, Latos-Bieleńska, Anna, Jamsheer, Aleksander
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4412513/
https://ncbi.nlm.nih.gov/pubmed/25339597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-014-0252-7
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