title: Molecular genetic analysis of a patient with moderate hemophilia A and psychomotor developmental delay.
authors.forename: M
authors.initials: M
authors.lastname: Gothwal
authors.forename: L
authors.initials: L
authors.lastname: Nakamura
authors.forename: I
authors.initials: I
authors.lastname: Hainmann
authors.forename: U
authors.initials: U
authors.lastname: Koehler
authors.forename: F
authors.initials: F
authors.lastname: Schilling
authors.forename: S
authors.initials: S
authors.lastname: Rost
authors.forename: J
authors.initials: J
authors.lastname: Oldenburg
authors.forename: B
authors.initials: B
authors.lastname: Zieger
mesh_terms: D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D058674:Chromosome Duplication; D041321:Chromosomes, Human, X / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005169:Factor VIII / Q000235:genetics; D005500:Follow-Up Studies; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics*; D012729:Sex Chromosome Aberrations
chemical_list: C078147:F8 protein, human; D005169:Factor VIII