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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1984-6-8
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pubmed:abstractText |
Arteriohepatic dysplasia (AHD) is a disorder characterized by intrahepatic cholestasis and peripheral pulmonary artery stenosis. We have reviewed the phenotypic features in the 56 previously reported cases and 7 persons from our institutions with AHD to summarize the type of cardiac, hepatic, facial, ocular and skeletal manifestations observed in this disorder. Family studies evaluating first-degree relatives of patients with AHD are compatible with an autosomal dominant mode of inheritance with reduced penetrance and variable expressivity.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0009-9163
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
25
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
323-31
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:6424981-Abnormalities, Multiple,
pubmed-meshheading:6424981-Adolescent,
pubmed-meshheading:6424981-Adult,
pubmed-meshheading:6424981-Bone and Bones,
pubmed-meshheading:6424981-Child,
pubmed-meshheading:6424981-Child, Preschool,
pubmed-meshheading:6424981-Cholestasis, Intrahepatic,
pubmed-meshheading:6424981-Constriction, Pathologic,
pubmed-meshheading:6424981-Eye Abnormalities,
pubmed-meshheading:6424981-Face,
pubmed-meshheading:6424981-Female,
pubmed-meshheading:6424981-Heart Defects, Congenital,
pubmed-meshheading:6424981-Humans,
pubmed-meshheading:6424981-Infant,
pubmed-meshheading:6424981-Male,
pubmed-meshheading:6424981-Middle Aged,
pubmed-meshheading:6424981-Pedigree,
pubmed-meshheading:6424981-Phenotype,
pubmed-meshheading:6424981-Pulmonary Artery
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pubmed:year |
1984
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pubmed:articleTitle |
Arteriohepatic dysplasia: phenotypic features and family studies.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, P.H.S.
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