Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?
Triphalangeal thumbs (TPTs) are regularly caused by mutations in the ZRS in LMBR1. Phenotypic variability can be present in TPT-families. However, recent observations suggest an increased occurrence of severe phenotypes in the Dutch TPT-population. Therefore, the aim of this study is to investigate the progression of the clinical severity of TPT-phenotype through generations. Index patients from a Dutch TPT-population were identified. A 105C>G mutation in t
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2017 |
Schlagwörter: | Genetic enhancer element / Genetic variation / Hedgehog proteins / Polydactyly / Thumb abnormalities |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-27064801 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://repub.eur.nl/pub/101907 |