Linked Life Data

16227096

Source:http://linkedlifedata.com/resource/pubmed/id/16227096

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5 Suppl 1
pubmed:dateCreated
2005-10-17
pubmed:abstractText
Transgrediens et progrediens palmoplantar keratoderma, known as Greither's syndrome, was originally described in 1952 and is characterized by diffuse keratoderma of the palms and soles, extending to the back aspects (transgrediens) and involving the skin over the Achilles' tendon. Patchy hyperkeratosis also develops on the shins, knees, elbows, and sometimes on the skin flexures. We describe two unrelated families affected with Greither's syndrome, in which the same dominant missense mutation gave rise to the amino acid change N188S in K1. The previously reported cases of Greither's syndrome showed phenotypic variability suggestive of different underlying gene defects. Our findings suggest that at least some cases of Greither's syndrome are caused by keratin mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1097-6787
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
53
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
S225-30
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Two families with Greither's syndrome caused by a keratin 1 mutation.
pubmed:affiliation
Department of Dermatology, Birmingham Children's Hospital, Birmingham, United Kingdom. asia@jgach.freeserve.co.uk
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't