| http://purl.uniprot.org/citations/29597095 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29597095 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29597095 | http://www.w3.org/2000/01/rdf-schema#comment | "Primordial dwarfism (PD) is mainly characterized by growth deficiency with heterogeneous phenotypes. A group of genes are known to be associated with PD or PD-related syndrome. WD repeat domain 4 (WDR4) is recently reported to be responsible for PD. Here we report a 6-year-old boy from a non-consanguineous couple with motor and speech delay as well as intellectual disability. Whole exome sequencing (WES) identified a missense mutation (NM_033661.4:c.491A > C; p.(Asp164Ala)) and a small insertion (NM_033661.4:c.940dupC; p.(Leu314Profs*16)) of WDR4 in this patient. Two novel mutations confirmed by Sanger sequencing are from father and mother respectively according to a recessive inheritance pattern. Asp164Ala located in functional region is predicted to be deleterious by two kinds of algorithm. The small insertion causing a frameshift mutation leads to truncated protein. In this study, we present two novel WDR4 mutations responsible for PD in a 6-year-old patient, expanding the molecular and phenotype spectrum of WDR4-related PD."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ejmg.2018.03.007"xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ejmg.2018.03.007"xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Chen X."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Chen X."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Dong X."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Dong X."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Gao Y."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Gao Y."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Liu B."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Liu B."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Lu Y."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Lu Y."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Yang L."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Yang L."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Wang H."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Wang H."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Zhou W."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Zhou W."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Wu B."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/author | "Wu B."xsd:string |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/29597095 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |