Učitavanje...

A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and Werner Mesomelic Syndrome in a Homozygous Form

Point mutations in the zone of polarizing activity regulatory sequence (ZRS) are known to cause human limb malformations. Although most mutations cause preaxial polydactyly (PPD), triphalangeal thumb (TPT) or both, a mutation in position 404 of the ZRS causes more severe Werner mesomelic syndrome (W...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: VanderMeer, Julia E., Lozano, Reymundo, Sun, Miao, Xue, Yuan, Daentl, Donna, Jabs, Ethylin Wang, Wilcox, William R., Ahituv, Nadav
Format: Artigo
Jezik:Inglês
Izdano: 2014
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4110103/
https://ncbi.nlm.nih.gov/pubmed/24777739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22581
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!