Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities-Reference-Cited by-同舟云学术

Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities

Published:2011-09-09 Issue:10 Volume:155 Page:2601-2604
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Matejas Verena,Muscheites Jutta,Wigger Marianne,Kreutzer Hans-Jürgen,Nizze Horst,Zenker Martin

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Ophthalmological aspects of Pierson syndrome;Bredrup;Am J Ophthalmol,2008

2. A new genetic concept: Uniparental disomy and its potential effect, isodisomy;Engel;Am J Med Genet,1980

3. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements;Engel;Eur J Hum Genet,2006

4. Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities;Fassihi;J Invest Dermatol,2006

5. Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3;Hoffman;Clin Genet,2007

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