Phenotypic spectrum in uniparental disomy: Low incidence or lack of study?

CONTEXT: Alterations in the human chromosomal complement are expressed phenotypically ranging from (i) normal, via (ii) frequent fetal loss in otherwise normal person, to (iii) sub-clinical to severe mental retardation and dysmorphism in live births. A subtle and microscopically undetectable chromos...

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Detalles Bibliográficos
Autores principales: Bhatt, Arpan D., Liehr, Thomas, Bakshi, Sonal R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841555/
https://www.ncbi.nlm.nih.gov/pubmed/24339543
http://dx.doi.org/10.4103/0971-6866.120819

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841555/
https://www.ncbi.nlm.nih.gov/pubmed/24339543
http://dx.doi.org/10.4103/0971-6866.120819

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