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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2013
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| Materias: | |
| 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 |