Condition: LETHAL CONGENITAL CONTRACTURE SYNDROME 7


rs768554986 in CNTNAP1 gene and LETHAL CONGENITAL CONTRACTURE SYNDROME 7 PMID 24319099 2014 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

PMID 27782105 2017 Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.

PMID 28374019 2017 CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

PMID 28254648 2017 Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.