A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy

Clinical Genetics

Volumn 90, Issue 6, 2016, Pages 536-539

  Girisha, K M ^a   Shukla, A ^a   Trujillano, D ^b   Bhavani, G S ^a   Hebbar, M ^a   Kadavigere, R ^a   Rolfs, A ^b,c  

^a KASTURBA MEDICAL COLLEGE   (India)

^b CENTOGENE AG   (Germany)

^c UNIVERSITY OF ROSTOCK   (Germany)

Author keywords

chondrodysplasia; ciliopathy; exome sequencing; intraflagellar transport; sensenbrenner syndrome; short rib thoracic dysplasia

Indexed keywords

BRONCHODILATING AGENT; INTRAFLAGELLAR TRANSPORT 52 PROTEIN; PROLINE RICH PROTEIN; UNCLASSIFIED DRUG; CARRIER PROTEIN; INTRAFLAGELLAR TRANSPORT PROTEIN 52, HUMAN; MICROTUBULE ASSOCIATED PROTEIN; TRAF3IP1 PROTEIN, HUMAN;

ARTICLE; BONE DISEASE; CASE REPORT; CHILD; CHONDRODYSPLASIA; CLINICAL FEATURE; EXOME; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; NONSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SENSENBRENNER SYNDROME; SKELETAL CILIOPATHY; THORAX MALFORMATION; WHEEZING; ABNORMALITIES; BONE; CILIOPATHY; CILIUM; CRANIOFACIAL SYNOSTOSIS; ECTODERMAL DYSPLASIA; GENETICS; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY;

BONE AND BONES; CARRIER PROTEINS; CHILD, PRESCHOOL; CILIA; CILIOPATHIES; CRANIOSYNOSTOSES; ECTODERMAL DYSPLASIA; EXOME; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; PHENOTYPE;

EID: 84961262900     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12762     Document Type: Article

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