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8905192
Source:
http://linkedlifedata.com/resource/pubmed/id/8905192
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Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0000772
,
umls-concept:C0020225
,
umls-concept:C1442161
,
umls-concept:C1868854
pubmed:issue
4
pubmed:dateCreated
1997-2-18
pubmed:abstractText
We report on a neonate with multiple congenital anomalies and hydranencephaly. His chromosome constitution was 46,XY, del(13)(q22). This case further delineates the phenotypic variation of deletion distal 13q- syndrome.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/9207893
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0962-8827
pubmed:author
pubmed-author:Gershoni-BaruchRR
,
pubmed-author:ZekariaDD
pubmed:issnType
Print
pubmed:volume
5
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
289-94
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed-meshheading:8905192-Abnormalities, Multiple
,
pubmed-meshheading:8905192-Chromosome Deletion
,
pubmed-meshheading:8905192-Chromosomes, Human, Pair 13
,
pubmed-meshheading:8905192-Humans
,
pubmed-meshheading:8905192-Hydranencephaly
,
pubmed-meshheading:8905192-Infant, Newborn
,
pubmed-meshheading:8905192-Karyotyping
,
pubmed-meshheading:8905192-Male
,
pubmed-meshheading:8905192-Penis
,
pubmed-meshheading:8905192-Scrotum
pubmed:year
1996
pubmed:articleTitle
Deletion (13)(q22) with multiple congenital anomalies, hydranencephaly and penoscrotal transposition.
pubmed:affiliation
Department of Medical Genetics, Rambam Medical Center, Haifa, Israel.
pubmed:publicationType
Journal Article
,
Case Reports