Sökning: "popliteal pterygium syndrome"
Hittade 2 avhandlingar innehållade orden popliteal pterygium syndrome.
1. Genomic and dental investigations of individuals and families with non-syndromic cleft lip and/ or cleft palate, Van der Woude and popliteal pterygium syndromes
Sammanfattning : Van der Woude syndrome (VWS) is the most common oral cleft syndrome, accounting for two percent of all cleft lip and/or cleft palate (CL/P) cases. The main characteristics of VWS are lip pits (LP), cleft lip (CL), cleft lip and palate (CLP), cleft palate (CP) and/or hypodontia (H). LÄS MER
2. Application of genetic analyses in studies of syndromic and non-syndromic cleft lip and palate
Sammanfattning : Linkage analysis is one of the first and essential steps in the localization of human disease genes. In this study, the method was first applied in mapping of the disease in two families with isolated hyperparathyroidism (FIHP) to the hyperparathyroidism-jaw tumor (HPT-JT) syndrome locus at 1q21-q32. LÄS MER