Search for dissertations about: "popliteal pterygium syndrome"

Found 2 swedish dissertations containing the words popliteal pterygium syndrome.

2. 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

   Author : Marie Pegelow; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : 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). READ MORE

4. 2. Application of genetic analyses in studies of syndromic and non-syndromic cleft lip and palate

   Author : Fung Ki Wong; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Linkage analysis; cleft lip; cleft palate; van der Woude syndrome; popliteal pterygium syndrome; hyperthyroidism; candidate gene;

   Abstract : 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. READ MORE