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Uniparental disomy - clinical consequences due to imprinting and activation of recessive genes

✍ Scribed by Liehr, Thomas


Book ID
121565511
Publisher
BioMed Central
Year
2014
Tongue
English
Weight
72 KB
Volume
7
Category
Article
ISSN
1755-8166

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## Communicated by Nancy B. Spinner Maternal uniparental disomy 14 [upd( 14)mat] is associated with a recognizable phenotype that includes preand postnatal growth retardation, neonatal hypotonia, feeding problems and precocious puberty. Chromosome 14 contains an imprinted gene cluster, which is re