X-Linked Candidate Genes for a Ciliopathy-Like Disorder

The ability to interrogate the genome via chromosomal microarray and sequencing-based technologies has accelerated the ability to rapidly and accurately define etiologies as well as new candidate genes related to genetic conditions. We describe a male patient with a lethal presentation of a multiple...

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Bibliografiske detaljer
Udgivet i:Mol Syndromol
Main Authors: Pavey, Ashleigh R., Vilboux, Thierry, Babcock, Holly E., Ahronovich, Margot, Solomon, Benjamin D.
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2016
Fag:
Novel Insights from Clinical Practice
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4862391/
https://ncbi.nlm.nih.gov/pubmed/27194972
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000444666
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