Matches in UGent Biblio for { <https://biblio.ugent.be/publication/839102#aggregation> ?p ?o. }
Showing items 1 to 37 of
37
with 100 items per page.
- aggregation classification "A1".
- aggregation creator B436031.
- aggregation creator B436032.
- aggregation creator B436033.
- aggregation creator B436034.
- aggregation creator B436035.
- aggregation creator B436036.
- aggregation creator person.
- aggregation creator person.
- aggregation creator person.
- aggregation date "2009".
- aggregation hasFormat 839102.bibtex.
- aggregation hasFormat 839102.csv.
- aggregation hasFormat 839102.dc.
- aggregation hasFormat 839102.didl.
- aggregation hasFormat 839102.doc.
- aggregation hasFormat 839102.json.
- aggregation hasFormat 839102.mets.
- aggregation hasFormat 839102.mods.
- aggregation hasFormat 839102.rdf.
- aggregation hasFormat 839102.ris.
- aggregation hasFormat 839102.txt.
- aggregation hasFormat 839102.xls.
- aggregation hasFormat 839102.yaml.
- aggregation isPartOf urn:issn:1552-4825.
- aggregation language "eng".
- aggregation publisher "WILEY-LISS".
- aggregation title "Mesomelic Dysplasia With Acral Synostoses Verloes-David-Pfeiffer Type: Follow-Up Study Documents Progressive Clinical Course".
- aggregation abstract "Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, CHD, and ureteral anomalies. Since the original reports in 1995, two other patients have been described with this syndrome, one of them the patient reported in 1998 by Day-Salvatore. In this article, we report on the follow-up of some of the original cases and review the literature. We confirm that the Verloes-David-Pfeiffer syndrome (VDPS) is a progressive skeletal disorder that despite repeated corrective surgical intervention leads to severe limb deformities. No mutations were detected in the FLNB gene. To date, the cause and the pathogenesis of VDPS remain unknown. The latter is characterized in this study as a syndromic type of skeletal dysplasia because besides congenital malformations and multiple acromelic synostoses arising prenatally, VDPS manifests in postnatal life as a severe osteochondrodysplasia.".
- aggregation authorList BK760032.
- aggregation endPage "2225".
- aggregation issue "10".
- aggregation startPage "2220".
- aggregation volume "149A".
- aggregation isDescribedBy 839102.
- aggregation similarTo ajmg.a.32926.
- aggregation similarTo LU-839102.