Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient

Whole exome sequencing continues to end the diagnostic odyssey for a number of patients and expands our knowledge of phenotypes associated with gene mutations. We describe an 11-year-old female patient with a constellation of symptoms including congenital cataracts, gut dysmotility, sensory neuropat...

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Detalles Bibliográficos
Autores principales: Gelineau-Morel, Rose, Lukacs, Marshall, Weaver, K. Nicole, Hufnagel, Robert B., Gilbert, Donald L., Stottmann, Rolf W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083924/
https://www.ncbi.nlm.nih.gov/pubmed/27754416
http://dx.doi.org/10.3390/genes7100085

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083924/
https://www.ncbi.nlm.nih.gov/pubmed/27754416
http://dx.doi.org/10.3390/genes7100085

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