A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability.

[1]  B. Venkatesh,et al.  Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. , 2017, American journal of human genetics.

[2]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[3]  Judith G Hall,et al.  Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. , 2014, European journal of medical genetics.

[4]  L. Kegel,et al.  Adam22 Is a Major Neuronal Receptor for Lgi4-Mediated Schwann Cell Signaling , 2010, The Journal of Neuroscience.

[5]  Y. Ishihama,et al.  LGI1 and LGI4 bind to ADAM22, ADAM23 and ADAM11 , 2008, International journal of biological sciences.

[6]  S. Levinson,et al.  The Effect of the Mouse Mutation Claw Paw on Myelination and Nodal Frequency in Sciatic Nerves , 1998, The Journal of Neuroscience.

[7]  J. Hall Genetic aspects of arthrogryposis. , 1985, Clinical orthopaedics and related research.

[8]  J. Milbrandt,et al.  The claw paw mutation reveals a role for Lgi4 in peripheral nerve development , 2006, Nature Neuroscience.

[9]  Hall Jg,et al.  A retrospective study of pregnancy complications among 828 cases of arthrogryposis. , 1990 .

[10]  J. Hall,et al.  A retrospective study of pregnancy complications among 828 cases of arthrogryposis. , 1990, Genetic counseling.