| http://purl.uniprot.org/citations/17551331 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17551331 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17551331 | http://www.w3.org/2000/01/rdf-schema#comment | "Mulibrey nanism is a rare autosomal-recessive disorder characterized by prenatal onset severe growth retardation and pericardial constriction associated with abnormalities of muscle, liver, brain and eye. More than 80% of previously reported patients are of Finnish origin in whom a founder mutation in the TRIM37 gene have been described. We report on a 7-year-old Turkish boy who presented with classical phenotypic features of mulibrey nanism. Mutation screening of the TRIM37 gene revealed that the proband had a homozygous two base pair deletion, c.1894_1895delGA, resulting in a frame-shift and a premature termination codon. Our proband is one of the rare examples of mulibrey nanism outside Finland and extends the mutation spectrum in this disorder."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.org/dc/terms/identifier | "doi:10.1097/mcd.0b013e3280f6d00b"xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.org/dc/terms/identifier | "doi:10.1097/mcd.0b013e3280f6d00b"xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/author | "Tekin M."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/author | "Tekin M."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/author | "Lehesjoki A.E."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/author | "Lehesjoki A.E."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/author | "Hamalainen R.H."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/author | "Hamalainen R.H."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/author | "Alpan N."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/author | "Alpan N."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/author | "Doganc T."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/author | "Doganc T."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/author | "Konuk O."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/author | "Konuk O."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/author | "Yuksel Konuk B.E."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/author | "Yuksel Konuk B.E."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/name | "Clin. Dysmorphol."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/name | "Clin. Dysmorphol."xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/pages | "173-176"xsd:string |
| http://purl.uniprot.org/citations/17551331 | http://purl.uniprot.org/core/pages | "173-176"xsd:string |