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...

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Pubblicato in:J Med Genet
Autori principali: Sadler, Brooke, Haller, Gabe, Antunes, Lilian, Nikolov, Momchil, Amarillo, Ina, Coe, Bradley, Dobbs, Matthew B., Gurnett, Christina A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2020
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Copy-Number Variation
Accesso online: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
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