Severe congenital Factor VII deficiency associated with the 13q deletion syndrome.
The first reported case of clinically significant congenital Factor VII deficiency in association with the 13q deletion syndrome is presented. It illustrates the importance of knowledge of the specific genes involved in gross deletion syndromes and adds to the current clinical experience of this rare disease.
Hewson
Michael P
MP
Neonatal Unit, Department of Child Health, Wellington Hospital, Private Bag 7902, Wellington South 6015, New Zealand. Michael.Hewson@ccdhb.org.nz
Carter
John M
JM
D002675:Child, Preschool; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D005168:Factor VII Deficiency / Q000097:blood / Q000151:congenital* / Q000235:genetics*; D005260:Female; D006801:Humans; D012720:Severity of Illness Index; D013577:Syndrome