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...

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Main Authors: Laurell, Tobias, VanderMeer, Julia E, Wenger, Aaron M., Grigelioniene, Giedre, Nordenskjöld, Agneta, Arner, Marianne, Ekblom, Anna Gerber, Bejerano, Gill, Ahituv, Nadav, Nordgren, Ann
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha: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
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