title: Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities.
authors: Institute of Human Genetics, University Hospital Erlangen, University of Erlangen-Nuremberg, Germany.
authors: Verena
authors: V
authors: Matejas
authors: Jutta
authors: J
authors: Muscheites
authors: Marianne
authors: M
authors: Wigger
authors: Hans-Jürgen
authors: HJ
authors: Kreutzer
authors: Horst
authors: H
authors: Nizze
authors: Martin
authors: M
authors: Zenker
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D001483:Base Sequence; D001706:Biopsy; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology*; D017809:Fatal Outcome; D005858:Germany; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000473:pathology; D007797:Laminin / Q000235:genetics / Q000378:metabolism; D008297:Male; D008969:Molecular Sequence Data; D020294:Myasthenic Syndromes, Congenital; D009404:Nephrotic Syndrome; D010641:Phenotype; D011681:Pupil Disorders / Q000235:genetics* / Q000473:pathology*; D017422:Sequence Analysis, DNA; D024182:Uniparental Disomy / Q000235:genetics*
chemical_list: D007797:Laminin; C058783:laminin beta2