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

• Authors: Verena Matejas, Jutta Muscheites, Marianne Wigger, Hans-Jürgen Kreutzer, Horst Nizze, Martin Zenker
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 155A Issue 10 Pg. 2601-4 (Oct 2011) ISSN: 1552-4833 [Electronic] United States
• PMID: 21910237 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Laminin
• laminin beta2

Topics

• Abnormalities, Multiple (genetics, pathology)
• Base Sequence
• Biopsy
• Chromosomes, Human, Pair 3 (genetics)
• Eye Abnormalities (genetics, pathology)
• Fatal Outcome
• Germany
• Haplotypes (genetics)
• Humans
• Kidney (pathology)
• Laminin (genetics, metabolism)
• Male
• Molecular Sequence Data
• Myasthenic Syndromes, Congenital
• Nephrotic Syndrome
• Phenotype
• Pupil Disorders (genetics, pathology)
• Sequence Analysis, DNA
• Uniparental Disomy (genetics)