| http://purl.uniprot.org/citations/28617965 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28617965 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28617965 | http://www.w3.org/2000/01/rdf-schema#comment | "Microcephalic primordial dwarfisms are a group of rare Mendelian disorders characterized by severe growth retardation and microcephaly. The molecular basis is heterogeneous, with disease-causing genes implicated in different cellular functions. Recently, 2 patients were reported with the same homozygous variant in the WDR4 gene, coding for an enzyme responsible for the m7 G46 post transcriptional modification of tRNA. We report here 2 sisters harboring compound heterozygous variants of WDR4. Their phenotype differs from that of the first 2 described patients: they both have a severe microcephaly but only one of the 2 sisters had a head circumference at birth below -2 SD, their intellectual deficiency is less severe, and they have a growth hormone deficiency and a partial hypogonadotropic hypogonadotropism. One of the 2 variants is a frameshift mutation, and the other one is a missense occurring in the same nucleotide affected by the first reported pathogenic variant, which could therefore be a mutational hot spot. The description of these 2 sisters allow us to confirm that biallelic variants in the WDR4 gene can lead to a specific phenotype, characterized by severe growth retardation and microcephaly."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.13074"xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.13074"xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/author | "Lacombe D."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/author | "Lacombe D."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/author | "Lasseaux E."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/author | "Lasseaux E."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/author | "Trimouille A."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/author | "Trimouille A."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/author | "Drunat S."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/author | "Drunat S."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/author | "Arveiler B."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/author | "Arveiler B."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/author | "Rooryck C."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/author | "Rooryck C."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/author | "Barat P."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/author | "Barat P."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/author | "Deiller C."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/author | "Deiller C."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/name | "Clin. Genet."xsd:string |
| http://purl.uniprot.org/citations/28617965 | http://purl.uniprot.org/core/name | "Clin. Genet."xsd:string |