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Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
The 17p13.1 microdeletion syndrome is a recently described genomic disorder with a core clinical phenotype of intellectual disability, poor to absent speech, dysmorphic features, and a constellation of more variable clinical features, most prominently microcephaly. We identified five subjects with c...
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Pubblicato in: | Am J Hum Genet |
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Autori principali: | , , , , , , , , , , , , , , , , , |
Natura: | Artigo |
Lingua: | Inglês |
Pubblicazione: |
Elsevier
2014
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Soggetti: | |
Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4225592/ https://ncbi.nlm.nih.gov/pubmed/25439725 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.10.006 |
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