Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2008-9-22
pubmed:abstractText
Mutations in chromosome X open reading frame 6 (CXorf6), a recently described candidate gene involved in the development of male genitalia, have been found in patients with complex 46,XY disorders of sexual development (46,XY DSD) including micropenis, bifid scrotum, and penoscrotal hypospadias. The objective of this work was to identify genomic variants of CXorf6 in patients with isolated hypospadias, severe or non-severe.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1479-683X
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
159
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
453-8
pubmed:dateRevised
2009-9-21
pubmed:meshHeading
pubmed-meshheading:18635673-Child, pubmed-meshheading:18635673-Child, Preschool, pubmed-meshheading:18635673-DNA-Binding Proteins, pubmed-meshheading:18635673-Gene Deletion, pubmed-meshheading:18635673-Genetic Predisposition to Disease, pubmed-meshheading:18635673-Humans, pubmed-meshheading:18635673-Hypospadias, pubmed-meshheading:18635673-Incidence, pubmed-meshheading:18635673-Infant, pubmed-meshheading:18635673-Infant, Newborn, pubmed-meshheading:18635673-Male, pubmed-meshheading:18635673-Mutation, Missense, pubmed-meshheading:18635673-Nuclear Proteins, pubmed-meshheading:18635673-Pedigree, pubmed-meshheading:18635673-Phenotype, pubmed-meshheading:18635673-Protein Structure, Tertiary, pubmed-meshheading:18635673-Severity of Illness Index, pubmed-meshheading:18635673-Transcription Factors
pubmed:year
2008
pubmed:articleTitle
Mutations of CXorf6 are associated with a range of severities of hypospadias.
pubmed:affiliation
Department of Pediatric Urology, Center for the Study and Treatment of Hypospadias, Children's Medical Center, University of California San Francisco, 400 Parnassus Avenue, A 640, San Francisco, California 94143, USA.
pubmed:publicationType
Journal Article