Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

The paradigm of a single gene associated with one specific phenotype and mode of inheritance has been repeatedly challenged. Genotype-phenotype correlations can often be traced to different mutation types, localization of the variants in distinct protein domains, or the trigger of or escape from non...

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Publicat a:Am J Hum Genet
Autors principals: Harel, Tamar, Yesil, Gozde, Bayram, Yavuz, Coban-Akdemir, Zeynep, Charng, Wu-Lin, Karaca, Ender, Al Asmari, Ali, Eldomery, Mohammad K., Hunter, Jill V., Jhangiani, Shalini N., Rosenfeld, Jill A., Pehlivan, Davut, El-Hattab, Ayman W., Saleh, Mohammed A., LeDuc, Charles A., Muzny, Donna, Boerwinkle, Eric, Gibbs, Richard A., Chung, Wendy K., Yang, Yaping, Belmont, John W., Lupski, James R.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2016
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4800043/
https://ncbi.nlm.nih.gov/pubmed/26942288
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.01.011
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