An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

BACKGROUND: We describe molecular diagnosis in a complex consanguineous family: four offspring presented with combinations of three distinctive phenotypes; non-syndromic hearing loss (NSHL), an unusual skeletal phenotype comprising multiple fractures, cranial abnormalities and diaphyseal expansion,...

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Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: Le Quesne Stabej, Polona, James, Chela, Ocaka, Louise, Tekman, Mehmet, Grunewald, Stephanie, Clement, Emma, Stanescu, Horia C., Kleta, Robert, Morrogh, Deborah, Calder, Alistair, Williams, Hywel J., Bitner-Glindzicz, Maria
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2017
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Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5297239/
https://ncbi.nlm.nih.gov/pubmed/28173822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0582-8
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