Associated Papers
Diagnostic yield of exome sequencing in congenital vertical talus.
Tayebi N et al.
European Journal of Medical Genetics, 2022
Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.
Harita Y et al.
European Journal of Human Genetics : Ejhg, 2020
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
Edwards N et al.
Clinical Kidney Journal, 2015
Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function.
López-Arvizu C et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2011
The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.
Dunston JA et al.
Genomics, 2004
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