-
Familiar progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy and branchydactyly ; A new type of heart-hand syndrome? = Družinska napredujoča sinoatrialna in atrioventrikularna prevodna bolezen odrasle dobe z nenadno srčno smrtjo, dilatativno kardiomiopatijo in brahidaktilijo ; Nov tip sindroma srce-roka?Volk, Marija, dr. med. ...We identified a family with 10 affected members in 4 generations suffering from adult onset progressive sinoatrial and atrioventricular conduction disease, sudden death due to ventricular ... tachyarrhythmia, dilated cardiomyopathy, and a unique type of brachydactyly with mild hand involvement (short distal, middle, proximal phalanges and clinodactyly) and more severe foot involvement (short distal, proximal phalanges and metatarsal bones, shortor absent middle phalanges, terminal symphalangism, duplication of the bases of the second metatarsals, extra ossicles and syndactyly). The phenotypediffers from other reported genetic abnormalities and linkage exclusion of Holt-Oram syndrome, ulnar-mammary syndrome, brachydactylytype B or Robinow syndrome, and cardiac conduction disease or Brugada syndrome loci, suggest that we are reporting a new hereditary heart-hand syndrome.Source: Molekularna diagnostika v medicini : zbornik predavanj = Molecular diagnostics in medicine : proceedings (Str. 295-301)Type of material - conference contributionPublish date - 2005Language - englishCOBISS.SI-ID - 20474585
Author
Volk, Marija, dr. med. |
Šinkovec, Matjaž, 1955- |
Petrovič, Danijel, 1963- |
Peterlin, Borut, 1963-
Topics
Tachycardia, Ventricular |
Cardiomyopathy, Congestive |
Death, Sudden, Cardiac |
Pedigree |
Phenotype |
Adult |
Bundle-Branch Block |
Genetics |
Fenotip |
Kardiomiopatija kongestivna |
Rodovnik |
Smrt nenadna, srčna |
Tahikardija prekatna |
Hisov snop-kračni blok |
Odrasli
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|---|
Volk, Marija, dr. med. | 26331 |
Šinkovec, Matjaž, 1955- | 06010 |
Petrovič, Danijel, 1963- | 11252 |
Peterlin, Borut, 1963- | 10458 |
Select pickup location:
Material pickup by post
Notification
Subject headings in COBISS General List of Subject Headings
Select pickup location
Pickup location | Material status | Reservation |
---|
Please wait a moment.