title: Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.
authors.affiliation: Division of Reproduction, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Jakub
authors.initials: J
authors.lastname: Kornacki
authors.affiliation: Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Sowińska-Seidler
authors.affiliation: Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Socha
authors.affiliation: Department of Perinatology and Gynecology, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Mariola
authors.initials: M
authors.lastname: Ropacka
authors.affiliation: Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.|NZOZ Center for Medical Genetics GENESIS, Poznan, Poland.
authors.forename: Aleksander
authors.initials: A
authors.lastname: Jamsheer
mesh_terms: D003241:Consanguinity; D059472:Exome; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D058497:Fraser Syndrome / Q000175:diagnosis* / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
chemical_list: D016326:Extracellular Matrix Proteins; C475145:FRAS1 protein, human