Linked Life Data

6137880

Source:http://linkedlifedata.com/resource/pubmed/id/6137880

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1983-11-23
pubmed:abstractText
The multiple endocrine neoplasia (MEN) IIb syndrome has been differentiated from MEN IIa by the presence of various phenotypic characteristics such as mucosal neuromas, marfanoid habitus, congenital skeletal anomalies, and prominent corneal nerves, as well as the lack of parathyroid involvement. Analysis of a kindred with some characteristics of both syndromes (including an associated chromosomal deletion) tends to unify the MEN II syndromes as a single disorder with variable expressivity. The linear map of the genetic determinants is postulated to conform with the following phenotype order: parathyroid tumors, medullary thyroid cancer, pheochromocytomas, skeletal changes, prominent corneal nerves, mucosal neuromas, and marfanoid habitus. Appreciation of this sequence can allow earlier identification and treatment of affected individuals.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0039-6060
pubmed:author
pubmed:issnType
Print
pubmed:volume
94
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
650-4
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1983
pubmed:articleTitle
Phenotype mapping of the multiple endocrine neoplasia type II syndrome.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't