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

Matejas, Verena

Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities. [electronic resource] - American journal of medical genetics. Part A Oct 2011 - 2601-4 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.34214 doi


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