Associated Papers
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.
da Rocha LA et al.
Clinical Genetics, 2021
Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.
Kara B et al.
European Journal of Human Genetics : Ejhg, 2017
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
Weaver KN et al.
American Journal of Human Genetics, 2015
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