10422009

Source:http://linkedlifedata.com/resource/pubmed/id/10422009

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0014457, umls-concept:C0031575, umls-concept:C0040034, umls-concept:C1837218
pubmed:issue	2
pubmed:dateCreated	1999-12-27
pubmed:abstractText	The Roberts-SC (Pseudothalidomide) syndrome is a rare autosomal recessive disorder. We present a Roberts-SC Syndrome in a 20-day-old girl with phocomelia of the upper limbs, isolated cleft palate, micrognathia, prominent eyes, pectus excavatum, and pes equinovarus. Peripheral blood smear revealed thrombocytopenia and hypereosinophilia. Premature centromere separation in the child and also in her normal mother was noted.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9015261
pubmed:citationSubset	IM
pubmed:status	MEDLINE
pubmed:issn	1015-8146
pubmed:author	pubmed-author:CamlibelTT, pubmed-author:KutluNN, pubmed-author:MocanHH
pubmed:issnType	Print
pubmed:volume	10
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	157-61
pubmed:dateRevised	2006-7-6
pubmed:meshHeading	pubmed-meshheading:10422009-Cleft Palate, pubmed-meshheading:10422009-Ectromelia, pubmed-meshheading:10422009-Eosinophilia, pubmed-meshheading:10422009-Female, pubmed-meshheading:10422009-Humans, pubmed-meshheading:10422009-Infant, Newborn, pubmed-meshheading:10422009-Karyotyping, pubmed-meshheading:10422009-Thrombocytopenia
pubmed:year	1999
pubmed:articleTitle	Roberts SC phocomelia with isolated cleft palate, thrombocytopenia, and eosinophilia.
pubmed:affiliation	Jinemed Medical Center, Istanbul, Turkey.
pubmed:publicationType	Journal Article, Case Reports