Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
22
pubmed:dateCreated
1982-10-21
pubmed:abstractText
A karyotype 46,XY,20q-(q13 leads to qter) was found in an infant with severe mental deficiency, epilepsy, and the following dysmorphic features : upward slanting palpebral fissures, hypoplastic nasal bridge, bulbous nose, long philtrum, microretrognathia, and aplasia of the middle phalanx of fingers and toes. Adenosine deaminase activity was within the hemizygous range, permitting regional assignment of the ADA locus to 20q13 leads to qter.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:author
pubmed:day
3
pubmed:volume
58
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1366-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1982
pubmed:articleTitle
[Partial monosomy 20q : a new syndrome. Regional assignment of the ADA locus on 20q132 (author's transl)].
pubmed:publicationType
Journal Article, English Abstract, Case Reports