Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity-ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas

American Journal of Medical Genetics, Part A

Volumn 167, Issue 2, 2015, Pages 421-427

  Saari, Jonathan ^a   Lovell, Mark A ^a   Yu, Hung Chun ^b   Bellus, Gary A ^a  

^a CHILDREN S HOSPITAL COLORADO   (United States)

^b University of Colorado Denver and Children s Hospital Colorado   (United States)

Author keywords

Ciliopathy; Coarctation; Orofaciodigital syndrome; Polysyndactyly; Tongue hamartomas; WDPCP

Indexed keywords

PROGESTERONE; RNA SPLICING;

AORTA COARCTATION; APGAR SCORE; ARTICLE; CASE REPORT; CELL POLARITY; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONGENITAL HEART DEFECT, HAMARTOMA OF THE TONGUE AND POLYSYNDACTYLY; DYSOSTOSIS; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DISRUPTION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ALGORITHM; GENETIC VARIABILITY; GENOTYPE; HAMARTOMA; HETEROZYGOSITY; HUMAN; HYPOTHYROIDISM; MICROARRAY ANALYSIS; OROCARDIODIGITAL SYNDROME; PREGNANCY DIABETES MELLITUS; SYNDACTYLY; WDPCP GENE; AMINO ACID SUBSTITUTION; AORTIC COARCTATION; BIOPSY; FACIES; GENETIC ASSOCIATION; GENETICS; HETEROZYGOTE; INFANT; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; RADIOGRAPHY; RECESSIVE GENE; RNA SPLICING; TONGUE NEOPLASMS;

AMINO ACID SUBSTITUTION; AORTIC COARCTATION; BIOPSY; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; HAMARTOMA; HETEROZYGOTE; HUMANS; INFANT; PEDIGREE; PHENOTYPE; RNA SPLICE SITES; SYNDACTYLY; TONGUE NEOPLASMS;

EID: 84921342269     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36852     Document Type: Article

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