Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication
Keywords: AROS; acro-renal-ocular syndrome; BMPs; bone morphogenetic proteins; CT; Computed Tomography; Krd; kidney and renal defects; MRI; magnetic resonance imaging; OD; oculus dexter; OMIM; Online Mendelian Inheritance Man; OS; oculus sinister; PAX2; paired box