2333881

Source:http://linkedlifedata.com/resource/pubmed/id/2333881

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0020534, umls-concept:C0039082, umls-concept:C0039685, umls-concept:C0441748, umls-concept:C0848558
pubmed:issue	4
pubmed:dateCreated	1990-6-7
pubmed:abstractText	We report on 3 brothers with hypertelorism, hypospadias, and tetralogy of Fallot. Parents are first cousins once removed; the father has apparent hypertelorism. An apparently normal paternal uncle who is married to a second cousin also has a daughter with hypertelorism and tetralogy of Fallot. All similarly affected relatives have mild or borderline mental retardation. The combination of anomalies may represent a previously undescribed autosomal recessive disorder.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7708900
pubmed:citationSubset	IM
pubmed:status	MEDLINE
pubmed:month	Apr
pubmed:issn	0148-7299
pubmed:author	pubmed-author:FaragT ITI, pubmed-author:TeebiA SAS
pubmed:issnType	Print
pubmed:volume	35
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	516-8
pubmed:dateRevised	2004-11-17
pubmed:meshHeading	pubmed-meshheading:2333881-Bone Diseases, Developmental, pubmed-meshheading:2333881-Child, pubmed-meshheading:2333881-Child, Preschool, pubmed-meshheading:2333881-Consanguinity, pubmed-meshheading:2333881-Female, pubmed-meshheading:2333881-Humans, pubmed-meshheading:2333881-Hypertelorism, pubmed-meshheading:2333881-Hypospadias, pubmed-meshheading:2333881-Infant, pubmed-meshheading:2333881-Male, pubmed-meshheading:2333881-Syndrome, pubmed-meshheading:2333881-Tetralogy of Fallot
pubmed:year	1990
pubmed:articleTitle	Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot?
pubmed:affiliation	Kuwait Medical Genetics Centre, Maternity Hospital.
pubmed:publicationType	Journal Article, Case Reports