Associated Papers
A Truncating Variant of CHRNG as a Cause of Escobar Syndrome: A Multiple Pterygium Syndrome Subtype.
Sandweiss AJ et al.
Journal of Pediatric Genetics, 2022
Utilization of Whole Exome Sequencing in Lethal Form of Multiple Pterygium Syndrome: Identification of Mutations in Embryonal Subunit of Acetylcholine Receptor.
Nazari T et al.
International Journal of Molecular and Cellular Medicine, 2019
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Laquérriere A et al.
Human Molecular Genetics, 2014
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