|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
1999-9-23
|
|
pubmed:abstractText |
We present two siblings with retinitis pigmentosa, mental retardation, markedly short stature, and brachydactyly. This association of clinical findings appears to be distinct from previously described syndromes and seems to represent the pleiotropic effects of a single autosomal recessive gene.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jun
|
|
pubmed:issn |
1381-6810
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
20
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
127-31
|
|
pubmed:dateRevised |
2011-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:10420199-Adult,
pubmed-meshheading:10420199-Female,
pubmed-meshheading:10420199-Foot Deformities, Congenital,
pubmed-meshheading:10420199-Growth Disorders,
pubmed-meshheading:10420199-Hand Deformities, Congenital,
pubmed-meshheading:10420199-Humans,
pubmed-meshheading:10420199-Intellectual Disability,
pubmed-meshheading:10420199-Male,
pubmed-meshheading:10420199-Middle Aged,
pubmed-meshheading:10420199-Retinitis Pigmentosa
|
|
pubmed:year |
1999
|
|
pubmed:articleTitle |
Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs.
|
|
pubmed:affiliation |
Service of Genetics, Fundación Jimenez-Diaz, Madrid, Spain.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
