Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.
Pediatric & Reproductive Genetics, SA Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, North Adelaide, South Australia, Australia.
Christopher P
CP
Barnett
Emily J
EJ
Todd
Royston
R
Ong
Mark R
MR
Davis
Vanessa
V
Atkinson
Richard
R
Allcock
Nigel
N
Laing
Gianina
G
Ravenscroft
D001176:Arthrogryposis / Q000175:diagnosis* / Q000235:genetics*; D002675:Child, Preschool; D019066:Facies; D005260:Female; D006579:Heterozygote; D006801:Humans; D008666:Metalloendopeptidases / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
C492359:ECEL1 protein, human; D008666:Metalloendopeptidases