Condition: Distal arthrogryposis type 5D


rs149459910 in ECEL1 gene and Distal arthrogryposis type 5D PMID 23236030 2013 The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

PMID 23261301 2013 Mutations in ECEL1 cause distal arthrogryposis type 5D.

PMID 23829171 2014 Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.

PMID 23808592 2014 Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.