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Volumn 88, Issue 6, 2015, Pages 550-557

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

Author keywords

Ciliopathy; Exome sequencing; Jeune syndrome; Primary cilia; Short rib polydactyly

Indexed keywords

ADULT; ARTICLE; CHILD; CHONDRODYSPLASIA; CLINICAL ARTICLE; COST EFFECTIVENESS ANALYSIS; DYSTROPHY; EXOME; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENETICS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT RIB THORACIC DYSTROPHY; THORAX DISEASE; WHOLE EXOME SEQUENCING; ABNORMALITIES; ABNORMALITIES, MULTIPLE; DNA SEQUENCE; GENETIC PREDISPOSITION; GENOTYPE; MUTATION; NEWBORN; PATHOLOGY; PROCEDURES; REPRODUCIBILITY; RIB; SENSITIVITY AND SPECIFICITY; THORAX;

EID: 84946495375     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12550     Document Type: Article
Times cited : (46)

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