A Novel 13 Base Pair Insertion in the Sonic Hedgehog ZRS Limb Enhancer (LMBR1) Causes Preaxial Polydactyly with Triphalangeal Thumb

Mutations in the Sonic Hedgehog limb enhancer, the zone of polarizing activity regulatory sequence (LMBR1, commonly called the ZRS), cause limb malformations. In humans, three classes of mutations have been proposed based on the limb phenotype; single base changes throughout the region cause preaxia...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Laurell, Tobias, VanderMeer, Julia E, Wenger, Aaron M., Grigelioniene, Giedre, Nordenskjöld, Agneta, Arner, Marianne, Ekblom, Anna Gerber, Bejerano, Gill, Ahituv, Nadav, Nordgren, Ann
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2012
Schlagworte:
Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3370115/
https://ncbi.nlm.nih.gov/pubmed/22495965
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22097
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge