8305965

Source:http://linkedlifedata.com/resource/pubmed/id/8305965

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0005744, umls-concept:C0033377, umls-concept:C0039082, umls-concept:C0221357, umls-concept:C0266011, umls-concept:C0443147
pubmed:issue	4
pubmed:dateCreated	1994-3-17
pubmed:abstractText	A father and two sons with blepharophimosis, ptosis, polythelia and brachydactyly are presented, apparently without other abnormalities. The features do not fit into any previously described syndrome. This condition may represent a hitherto undescribed syndrome, although resemblance with the blepharophimosis-ptosis-epicanthus inversus syndrome exists. Inheritance is probably autosomal dominant.
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:HennekamR CRC, pubmed-author:Wittebol-PostDD
pubmed:issnType	Print
pubmed:volume	2
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	346-50
pubmed:dateRevised	2004-11-17
pubmed:meshHeading	pubmed-meshheading:8305965-Adult, pubmed-meshheading:8305965-Blepharophimosis, pubmed-meshheading:8305965-Blepharoptosis, pubmed-meshheading:8305965-Child, pubmed-meshheading:8305965-Genes, Dominant, pubmed-meshheading:8305965-Hand Deformities, Congenital, pubmed-meshheading:8305965-Humans, pubmed-meshheading:8305965-Male, pubmed-meshheading:8305965-Nipples, pubmed-meshheading:8305965-Syndrome
pubmed:year	1993
pubmed:articleTitle	Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome?
pubmed:affiliation	F.C. Donders Institute of Ophthalmology, University Hospital Utrecht, The Netherlands.
pubmed:publicationType	Journal Article, Case Reports