title: Novel severe hemophilia A and moyamoya (SHAM) syndrome caused by Xq28 deletions encompassing F8 and BRCC3 genes.
authors.affiliation: Department of Pediatrics, Oncology, Hematology, and Diabetology, Medical University of Lodz, Lodz, Poland.
authors.forename: Szymon
authors.initials: S
authors.lastname: Janczar
authors.affiliation: Laboratory for Microarray Analysis, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Fogtman
authors.affiliation: Faculty of Biology, University of Warsaw, Warsaw, Poland Laboratory for Microarray Analysis, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland.
authors.forename: Marta
authors.initials: M
authors.lastname: Koblowska
authors.affiliation: Department of Pediatric Radiology, University Hospital No 4, Lodz, Poland.
authors.forename: Dobromila
authors.initials: D
authors.lastname: Baranska
authors.affiliation: Department of Pediatrics, Oncology, Hematology, and Diabetology, Medical University of Lodz, Lodz, Poland.
authors.forename: Agata
authors.initials: A
authors.lastname: Pastorczak
authors.affiliation: Department of Pediatrics, Oncology, Hematology, and Diabetology, Medical University of Lodz, Lodz, Poland.
authors.forename: Olga
authors.initials: O
authors.lastname: Wegner
authors.affiliation: Department of Pediatrics, Oncology, Hematology, and Diabetology, Medical University of Lodz, Lodz, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Kostrzewska
authors.affiliation: Department of Pediatrics, Hematology and Oncology, Medical University of Warsaw, Warsaw, Poland.
authors.forename: Pawel
authors.initials: P
authors.lastname: Laguna
authors.affiliation: Department of Pediatrics, Oncology, Hematology, and Diabetology, Medical University of Lodz, Lodz, Poland.
authors.forename: Maciej
authors.initials: M
authors.lastname: Borowiec
authors.affiliation: Department of Pediatrics, Oncology, Hematology, and Diabetology, Medical University of Lodz, Lodz, Poland.
authors.forename: Wojciech
authors.identifier: http://orcid.org/0000-0003-2714-5851
authors.initials: W
authors.lastname: Mlynarski
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D000072017:Deubiquitinating Enzymes; D005169:Factor VIII / Q000235:genetics*; D017353:Gene Deletion; D006467:Hemophilia A / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D018810:Magnetic Resonance Angiography; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009072:Moyamoya Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods; D012720:Severity of Illness Index
chemical_list: D008565:Membrane Proteins; C078147:F8 protein, human; D005169:Factor VIII; C518017:BRCC3 protein, human; D000072017:Deubiquitinating Enzymes