| http://purl.uniprot.org/citations/25692795 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25692795 | http://www.w3.org/2000/01/rdf-schema#comment | "Microcephaly-capillary malformation syndrome (MIC-CAP syndrome) is a newly recognized autosomal recessive congenital neurocutaneous central nervous system disorder characterized by severe microcephaly, early-onset seizures, profound psychomotor disability, and multiple cutaneous capillary lesions. In addition, affected patients have variable dysmorphic facial features and hypoplastic distal phalanges. It is distinctively caused by mutations in a newly characterized gene, STAMBP, encoding the deubiquitinating (DUB) isopeptidase that has a key role in cell surface receptor-mediated endocytosis and sorting. Herein, we describe an Arab family of two siblings with classic features of MIC-CAP syndrome that harbor a novel predicted splice mutation in STAMBP, which additionally display previously unreported findings of congenital hypothyroidism and alopecia areata."xsd:string |
| http://purl.uniprot.org/citations/25692795 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.36782"xsd:string |
| http://purl.uniprot.org/citations/25692795 | http://purl.uniprot.org/core/author | "Gleeson J.G."xsd:string |
| http://purl.uniprot.org/citations/25692795 | http://purl.uniprot.org/core/author | "Rosti R.O."xsd:string |
| http://purl.uniprot.org/citations/25692795 | http://purl.uniprot.org/core/author | "Spencer E.G."xsd:string |
| http://purl.uniprot.org/citations/25692795 | http://purl.uniprot.org/core/author | "Faqeih E.A."xsd:string |
| http://purl.uniprot.org/citations/25692795 | http://purl.uniprot.org/core/author | "Saleh M.A."xsd:string |
| http://purl.uniprot.org/citations/25692795 | http://purl.uniprot.org/core/author | "Bastaki L."xsd:string |
| http://purl.uniprot.org/citations/25692795 | http://purl.uniprot.org/core/author | "Um K."xsd:string |
| http://purl.uniprot.org/citations/25692795 | http://purl.uniprot.org/core/author | "Zada A.P."xsd:string |
| http://purl.uniprot.org/citations/25692795 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/25692795 | http://purl.uniprot.org/core/name | "Am J Med Genet A"xsd:string |
| http://purl.uniprot.org/citations/25692795 | http://purl.uniprot.org/core/pages | "805-809"xsd:string |
| http://purl.uniprot.org/citations/25692795 | http://purl.uniprot.org/core/title | "Novel STAMBP mutation and additional findings in an Arabic family."xsd:string |
| http://purl.uniprot.org/citations/25692795 | http://purl.uniprot.org/core/volume | "167A"xsd:string |
| http://purl.uniprot.org/citations/25692795 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/25692795 |
| http://purl.uniprot.org/citations/25692795 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/25692795 |
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| http://purl.uniprot.org/uniprot/O95630 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/25692795 |
| http://purl.uniprot.org/uniprot/A0A804HIF8 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/25692795 |