Linked Life Data

14556244

Source:http://linkedlifedata.com/resource/pubmed/id/14556244

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2003-10-13
pubmed:abstractText
In 1973, Jones and Smith described two maternal male first cousins with a similar pattern of malformation, including mental retardation, cubitus valgus, and unusual facies. The purpose of this report is to describe three additional cases, a 10-year-old male and his 30-year-old maternal uncle and an unrelated 15-year-old boy, bringing to five the total number of individuals with this disorder. The principal features include moderate mental retardation, mild microcephaly, a short philtrum, deep-set, downslanting palpebral fissures, multiple nevi, and striking cubitus valgus. Documentation of this disorder in two maternal male first cousins as well as in a male and his maternal uncle support an X-linked recessive mode of inheritance for this condition.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
Copyright 2003 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
123A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
33-6
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
X-linked cubitus valgus with mental retardation and typical face.
pubmed:affiliation
Department of Pediatrics, University of California, San Diego, School of Medicine, La Jolla, California, USA. klyons@ucsd.edu
pubmed:publicationType
Journal Article, Case Reports