Paper Details

Paper Title

Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.

Paper Journal Title

Hum Mutat

Paper Citation Count

Paper Publication Year

2020

Bio Mention

KIF1A, KIF1A dysfunction, KIF1A molecular motor domain, KIF1A variants, KIF1A-related dominant disorders, Mendelian disorders, cataplexy, coxa valga, double collecting system, dystonia, hip subluxation, in-frame deletion, intellectual disability, neuromuscular disorder, sensory neurons, spastic paraplegia

Mesh Descriptor

Author Name	Affiliation
Joy Jayaseelan	Baylor College of Medicine
Hua Shen	Baylor College of Medicine
Shalini N Jhangiani	Baylor College of Medicine
Donna M Muzny	Baylor College of Medicine
Donna M Muzny	Baylor College of Medicine
Donna M Muzny	Baylor College of Medicine
Donna M Muzny	Baylor College of Medicine
Jennifer E Posey	Baylor College of Medicine
Pengfei Liu	Baylor College of Medicine
Pengfei Liu
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine

1 - 22

Paper Details

Column Actions

Datasets