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]
Producer: 20120118Description: 2601-4 p. digitalISSN:- 1552-4833
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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