Rare and de novo duplications containing SHOX in clubfoot

INTRODUCTION: Congenital clubfoot is a common birth defect that affects at least 0.1% of all births. Nearly 25% cases are familial and the remaining are sporadic in inheritance. Copy number variants (CNVs) involving transcriptional regulators of limb development, including PITX1 and TBX4, have previ...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:J Med Genet
Hauptverfasser: Sadler, Brooke, Haller, Gabe, Antunes, Lilian, Nikolov, Momchil, Amarillo, Ina, Coe, Bradley, Dobbs, Matthew B., Gurnett, Christina A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Publishing Group 2020
Schlagworte:
Copy-Number Variation
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7688552/
https://ncbi.nlm.nih.gov/pubmed/32518174
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2020-106842
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge