Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11
Amie Nguyen, Henry Y. Lu, Bradly M. Bauman, Gina Dabbah‐Krancher, Xijun Zhang, Gauthaman Sukumar, Joaquín Villar, Marita Bosticardo, Shefali Samant, Timothy James Maarup, Jerry C. Cheng, Neena Kapoor, David S. Cassarino, Joshua D. Milner, Luigi D. Notarangelo, Joseph A. Church, Javed Sheikh, Clifton L. Dalgard, Stuart E. Turvey, Andrew L. Snow
Topics & Concepts
Loss functionGeneticsMedical microbiologyDiseaseBiologyFunction (biology)MedicinePhenotypePathologyGeneImmunologyHereditary Neurological DisordersImmunodeficiency and Autoimmune DisordersRNA regulation and disease