Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1981-11-22
pubmed:abstractText
Two cases, a father and daughter, with all the principal signs of tricho-rhino-phalangeal syndrome Type II are described, although nine previously reported cases were all sporadic. It is suggested that these patients have a genetic disorder with an autosomal dominant mode of inheritance. It may be reasonable to assume that a patient with relatively mild mental retardation, such as the father in the present report, could marry and have off-spring. Generalized aminoaciduria was found in the affected daughter.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
149-55
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1981
pubmed:articleTitle
Familial tricho-rhino-phalangeal syndrome Type II.
pubmed:publicationType
Journal Article, Case Reports