Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1

Gene

Volumn 520, Issue 2, 2013, Pages 194-197

  Hoefele, Julia ^a   Wilhelm, Christian ^b   Schiesser, Monika ^c   Mack, Reinhold ^c   Heinrich, Uwe ^a   Weber, Lutz T ^d   Biskup, Saskia ^b   Daumer Haas, Cornelia ^e   Klein, Hanns Georg ^a   Rost, Imma ^a  

^a Center for Human Genetics and Laboratory Medicine   (Germany)

^b CEGAT GMBH   (Germany)

^c Ludwig Maximilians University ^*

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e Prenatal Medicine Munich   (Germany)

Author keywords

Array CGH; FRAS1; Fraser syndrome; Large deletions

Indexed keywords

GENOMIC DNA;

ADULT; ANOPHTHALMIA; ANUS ATRESIA; ARTICLE; AUTOPSY; CASE REPORT; CHORION VILLUS; CHROMOSOME 4Q; CLEFT LIP PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA EXTRACTION; DNA SEQUENCE; ECHOGRAPHY; EXON; FEMALE; FETUS; FRAMESHIFT MUTATION; FRAS1 GENE; FRASER SYNDROME; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC POLYMORPHISM; GESTATIONAL AGE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INDUCED ABORTION; MALE; MUTATIONAL ANALYSIS; PEDIGREE; PRIORITY JOURNAL; STILLBIRTH; SYNDACTYLY; TRACHEA STENOSIS;

ABORTED FETUS; ABORTION, INDUCED; EXTRACELLULAR MATRIX PROTEINS; FAMILY; FEMALE; FRAMESHIFT MUTATION; FRASER SYNDROME; HETEROZYGOTE; HUMANS; PEDIGREE; PREGNANCY; SEQUENCE DELETION;

EID: 84876339654     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.02.031     Document Type: Article

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