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rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
7
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pubmed:dateCreated |
1994-2-24
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|
pubmed:abstractText |
We report on a mother and daughter with the Brachmann-de Lange syndrome which supports the view that in some families this disorder is due to autosomal dominant inheritance. A review of the literature concerning autosomal and recessive inheritance of this syndrome is presented.
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pubmed:commentsCorrections |
|
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Nov
|
|
pubmed:issn |
0148-7299
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:day |
15
|
|
pubmed:volume |
47
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1064-7
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|
pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:8291524-Adult,
pubmed-meshheading:8291524-Child,
pubmed-meshheading:8291524-De Lange Syndrome,
pubmed-meshheading:8291524-Face,
pubmed-meshheading:8291524-Female,
pubmed-meshheading:8291524-Genes, Dominant,
pubmed-meshheading:8291524-Growth Disorders,
pubmed-meshheading:8291524-Hand Deformities, Congenital,
pubmed-meshheading:8291524-Humans,
pubmed-meshheading:8291524-Intellectual Disability
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|
pubmed:year |
1993
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|
pubmed:articleTitle |
Familial Brachmann-de Lange syndrome: further evidence for autosomal dominant inheritance and review of the literature.
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|
pubmed:affiliation |
Department of Genetics, Franciscan Children's Hospital, Brighton, MA 02135.
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|
pubmed:publicationType |
Journal Article,
Review,
Case Reports,
Research Support, Non-U.S. Gov't
|
