Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins

Human Mutation

Volumn 34, Issue 11, 2013, Pages 1467-1471

  Szafranski, Przemyslaw ^a   Yang, Yaping ^a   Nelson, Melissa U ^b   Bizzarro, Matthew J ^b   Morotti, Raffaella A ^b   Langston, Claire ^c   Stankiewicz, Paweł ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

CNV; Enhancer; FOXF1; Intronic copy number variants; Splicing

Indexed keywords

CCAAT ENHANCER BINDING PROTEIN BETA; FOXF1 PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR CTCF; UNCLASSIFIED DRUG;

ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEIN; ARTICLE; BINDING SITE; BIOINFORMATICS; CHROMOSOME 16; CHROMOSOME DELETION; GENE DELETION; HAPLOINSUFFICIENCY; HUMAN; HUMAN TISSUE; INTRON; LUNG FIBROBLAST; LUNG MALFORMATION; PRIORITY JOURNAL; PROMOTER REGION;

CNV; ENHANCER; FOXF1; INTRONIC COPY-NUMBER VARIANTS; SPLICING;

ALTERNATIVE SPLICING; BASE SEQUENCE; CHROMOSOME BREAKPOINTS; CHROMOSOMES, HUMAN, PAIR 16; DNA MUTATIONAL ANALYSIS; FORKHEAD TRANSCRIPTION FACTORS; GENES, LETHAL; HUMANS; INTRONS; LUNG; PERSISTENT FETAL CIRCULATION SYNDROME; SEQUENCE DELETION;

EID: 84885422260     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22395     Document Type: Article

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