Linked Life Data

6346981

Source:http://linkedlifedata.com/resource/pubmed/id/6346981

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1983-8-11
pubmed:abstractText
The first familial observation of the Marshall-Smith syndrome is showed. The propositi are a male and female relatives with a double consanguinity and whose family comes from a small area with a high rate of inbreeding. According to this hypothesis autosomal recessive inheritance for this syndrome is proposed as very suggestive. These two new cases seem to prove that the mental retardation may not be a typical clinic features and that survival of the cases longer that expected may be considered. One of our patients is a three years old female and the other one is nearly eleven years old male. The syndrome delineation is given by very closely homogeneous patterns. Said patterns also single it out from the Weaver syndrome.
pubmed:language
spa
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0302-4342
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
45-50
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1983
pubmed:articleTitle
[Marshall-Smith syndrome. Apropos of a personal case].
pubmed:publicationType
Journal Article, English Abstract, Case Reports