Results

RDF/XMLNTriplesTurtleShow queryShare ▶
SubjectPredicateObject
http://purl.uniprot.org/citations/18259761http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/18259761http://www.w3.org/2000/01/rdf-schema#comment"

Introduction

Mowat-Wilson syndrome is a congenital syndrome caused by a defect of the transcriptional repressor ZFHX1B (SIP1) gene on the chromosome 2q22-q23. The genotype-phenotype analysis confirmed that ZFHX1B deletions and mutations result in a recognizable facial dysmorphism with a multiple congenital anomaly and mental retardation.

Case report

This report is about one new patient from Croatia with the typical phenotype. Molecular genetic studies showed the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816). This mutation has not been reported before. The literature is reviewed.

Conclusion

Mowat-Wilson syndrome is a newly described congenital syndrome and should be considered in any individual with characteristic facial features and mental retardation in associations with congenital malformations."xsd:string
http://purl.uniprot.org/citations/18259761http://purl.org/dc/terms/identifier"doi:10.1007/s00381-007-0557-5"xsd:string
http://purl.uniprot.org/citations/18259761http://purl.uniprot.org/core/author"Sasso A."xsd:string
http://purl.uniprot.org/citations/18259761http://purl.uniprot.org/core/author"Brajenovic-Milic B."xsd:string
http://purl.uniprot.org/citations/18259761http://purl.uniprot.org/core/author"Brajnovic-Zaputovic S."xsd:string
http://purl.uniprot.org/citations/18259761http://purl.uniprot.org/core/author"Kamber-Makek S."xsd:string
http://purl.uniprot.org/citations/18259761http://purl.uniprot.org/core/author"Paucic-Kirincic E."xsd:string
http://purl.uniprot.org/citations/18259761http://purl.uniprot.org/core/author"Sindicic N."xsd:string
http://purl.uniprot.org/citations/18259761http://purl.uniprot.org/core/date"2008"xsd:gYear
http://purl.uniprot.org/citations/18259761http://purl.uniprot.org/core/name"Childs Nerv Syst"xsd:string
http://purl.uniprot.org/citations/18259761http://purl.uniprot.org/core/pages"615-618"xsd:string
http://purl.uniprot.org/citations/18259761http://purl.uniprot.org/core/title"Mowat--Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816)."xsd:string
http://purl.uniprot.org/citations/18259761http://purl.uniprot.org/core/volume"24"xsd:string
http://purl.uniprot.org/citations/18259761http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/18259761
http://purl.uniprot.org/citations/18259761http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/18259761
http://purl.uniprot.org/uniprot/#_A0JP08-mappedCitation-18259761http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18259761
http://purl.uniprot.org/uniprot/#_Q53TD9-mappedCitation-18259761http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18259761
http://purl.uniprot.org/uniprot/#_Q53TG0-mappedCitation-18259761http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18259761
http://purl.uniprot.org/uniprot/#_O60315-mappedCitation-18259761http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18259761
http://purl.uniprot.org/uniprot/#_Q60F94-mappedCitation-18259761http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18259761
http://purl.uniprot.org/uniprot/#_Q60F95-mappedCitation-18259761http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18259761
http://purl.uniprot.org/uniprot/#_Q9P0F4-mappedCitation-18259761http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/18259761
http://purl.uniprot.org/uniprot/A0JP08http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/18259761
http://purl.uniprot.org/uniprot/Q53TG0http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/18259761
▶