TY  - GEN
AU  - Matejas,Verena
AU  - Muscheites,Jutta
AU  - Wigger,Marianne
AU  - Kreutzer,Hans-Jürgen
AU  - Nizze,Horst
AU  - Zenker,Martin
TI  - Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities
SN  - 1552-4833
PY  - 2012///0118
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Base Sequence
KW  - Biopsy
KW  - Chromosomes, Human, Pair 3
KW  - Eye Abnormalities
KW  - Fatal Outcome
KW  - Germany
KW  - Haplotypes
KW  - Humans
KW  - Kidney
KW  - pathology
KW  - Laminin
KW  - Male
KW  - Molecular Sequence Data
KW  - Myasthenic Syndromes, Congenital
KW  - Nephrotic Syndrome
KW  - Phenotype
KW  - Pupil Disorders
KW  - Sequence Analysis, DNA
KW  - Uniparental Disomy
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.34214
ER  -