3055984

Source:http://linkedlifedata.com/resource/pubmed/id/3055984

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0008059, umls-concept:C0239399, umls-concept:C0282631, umls-concept:C0349588, umls-concept:C1853235
pubmed:issue	3
pubmed:dateCreated	1988-12-7
pubmed:abstractText	We describe a boy with sclerocornea, short limbs, short stature and a distinct facial appearance. The resemblance to other reports of affected sibs suggests that this is a newly recognised, autosomal recessive syndrome.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7708900
pubmed:citationSubset	IM
pubmed:status	MEDLINE
pubmed:month	Jul
pubmed:issn	0148-7299
pubmed:author	pubmed-author:ThompsonE MEM, pubmed-author:WinterR MRM
pubmed:issnType	Print
pubmed:volume	30
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	719-24
pubmed:dateRevised	2005-11-16
pubmed:meshHeading	pubmed-meshheading:3055984-Abnormalities, Multiple, pubmed-meshheading:3055984-Child, Preschool, pubmed-meshheading:3055984-Cornea, pubmed-meshheading:3055984-Face, pubmed-meshheading:3055984-Genes, Recessive, pubmed-meshheading:3055984-Growth Disorders, pubmed-meshheading:3055984-Humans, pubmed-meshheading:3055984-Limb Deformities, Congenital, pubmed-meshheading:3055984-Male, pubmed-meshheading:3055984-Syndrome
pubmed:year	1988
pubmed:articleTitle	A child with sclerocornea, short limbs, short stature, and distinct facial appearance.
pubmed:affiliation	Department of Paediatric Genetics, Hospitals for Sick Children, London, U.K.
pubmed:publicationType	Journal Article, Review, Case Reports