Partial Paternal Uniparental Disomy of Chromosome 6 in an Infant with Neonatal Diabetes, Macroglossia, and Craniofacial Abnormalities
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference41 articles.
1. Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus;Abramowicz;J Clin Invest,1994
2. Transient neonatal diabetes mellitus in a child with inv dup(6)(q22q23) of paternal origin;Arthur;Eur J Hum Genet,1997
3. Transient neonatal diabetes mellitus and macroglossia;Battin;J Perinatol,1996
4. Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome;Bischoff;Hum Mol Genet,1995
5. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome;Catchpoole;J Med Genet,1997
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