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Paper Details

Maternal mosaicism for a missense variant in the <i>SMS</i> gene that causes Snyder-Robinson syndrome.
Cold Spring Harb Mol Case Stud
1
2021
84,000-175,, Arg130Cys, SMS, SMS gene, Snyder-Robinson syndrome, X-linked SMS, X-linked SMS gene, bilateral, blood, congenital heart disease, dysmorphic features, genetic disorders, human, hyperinsulinemic hypoglycemia, hypothyroidism, hypotonia, p.Arg130Cys, patient, sensorineural hearing loss, sequence variants, spermidine, spermine, spermine synthase
Author NameAffiliation
Katherine E MillerThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital
Kathleen M SchiefferThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital
Peter WhiteThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital
Peter WhiteDepartment of Pediatrics at The Ohio State University College of Medicine
Daniel C KoboldtThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital
Daniel C KoboldtDepartment of Pediatrics at The Ohio State University College of Medicine
Richard K WilsonThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital
Richard K WilsonDepartment of Pediatrics at The Ohio State University College of Medicine
Richard K WilsonThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Abigail Wexner Research Institute at Nationwide Children's Hospital
Richard K WilsonDepartment of Pediatrics at The Ohio State University College of Medicine
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