|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0005744,
umls-concept:C0033377,
umls-concept:C0039082,
umls-concept:C0040715,
umls-concept:C0205415,
umls-concept:C0332281,
umls-concept:C0596142,
umls-concept:C0599718,
umls-concept:C0599813,
umls-concept:C0599893,
umls-concept:C1303003,
umls-concept:C1515568,
umls-concept:C1522702,
umls-concept:C1533148
|
|
pubmed:issue |
3
|
|
pubmed:dateCreated |
1994-9-23
|
|
pubmed:abstractText |
This paper reports a further case of blepharophimosis, ptosis, epicanthus inversus (BPES) syndrome associated with a reciprocal translocation [46,XY,t(3;7)(q23;q32)], involving band 3q23. This case supports the assignment of a BPES gene(s) to the 3q23 region.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jul
|
|
pubmed:issn |
0148-7299
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:day |
1
|
|
pubmed:volume |
51
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
258-9
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:8074155-Blepharophimosis,
pubmed-meshheading:8074155-Blepharoptosis,
pubmed-meshheading:8074155-Child, Preschool,
pubmed-meshheading:8074155-Chromosome Banding,
pubmed-meshheading:8074155-Chromosome Mapping,
pubmed-meshheading:8074155-Chromosomes, Human, Pair 3,
pubmed-meshheading:8074155-Chromosomes, Human, Pair 7,
pubmed-meshheading:8074155-Eyelids,
pubmed-meshheading:8074155-Humans,
pubmed-meshheading:8074155-Male,
pubmed-meshheading:8074155-Syndrome,
pubmed-meshheading:8074155-Translocation, Genetic
|
|
pubmed:year |
1994
|
|
pubmed:articleTitle |
Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].
|
|
pubmed:affiliation |
Istituto di Clinica e Biologia dell'Età Evolutiva, Università di Cagliari, Italy.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
