Associated Papers
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
Kolvenbach CM et al.
Journal of Medical Genetics, 2023
SHROOM4 Variants Are Associated With X-Linked Epilepsy With Features of Generalized Seizures or Generalized Discharges.
Bian WJ et al.
Frontiers in Molecular Neuroscience, 2022
Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?
Routier L et al.
Clinical Genetics, 2019
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