title: A neonate with homozygous protein C deficiency with a homozygous Arg178Trp mutation.
abstract: Homozygous protein C deficiency affects approximately 1/400,000 to 1/1,000,000 live births. Homozygous protein C deficiency is associated with catastrophic and fatal purpura fulminans-like or thrombotic complications and disseminated intravascular coagulation. In the present patient, genetic study revealed Arg178Trp, a mutation found widely in European population; but this is the first case of homozygous Arg178Trp mutation who suffered from catastrophic purpura fulminans phenotype.
authors.affiliation: Department of Neonatology, Cukurova University, Faculty of Medicine, Adana, Turkey. ferdaozlu72@yahoo.com
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozlu
authors.forename: Mayu
authors.initials: M
authors.lastname: Kyotani
authors.forename: Erdal
authors.initials: E
authors.lastname: Taskin
authors.forename: Kenan
authors.initials: K
authors.lastname: Ozcan
authors.forename: Tetsuhito
authors.initials: T
authors.lastname: Kojima
authors.forename: Tadashi
authors.initials: T
authors.lastname: Matsushita
authors.forename: Hacer
authors.initials: H
authors.lastname: Yapicioğlu
authors.forename: Akira
authors.initials: A
authors.lastname: Takagi
authors.forename: Ilgen
authors.initials: I
authors.lastname: Saşmaz
authors.forename: Mehmet
authors.initials: M
authors.lastname: Satar
authors.forename: Nejat
authors.initials: N
authors.lastname: Narli
mesh_terms: D001483:Base Sequence; D004211:Disseminated Intravascular Coagulation / Q000209:etiology; D005260:Female; D006720:Homozygote; D006801:Humans; D011695:IgA Vasculitis / Q000209:etiology*; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020151:Protein C Deficiency / Q000150:complications / Q000235:genetics* / Q000503:physiopathology