Joubert syndrome: A model for untangling recessive disorders with extreme genetic heterogeneity

Journal of Medical Genetics

Volumn 52, Issue 8, 2015, Pages 514-522

  Bachmann Gagescu, R ^a   Dempsey, J C ^b   Phelps, I G ^b   O'Roak, B J ^c   Knutzen, D M ^d   Rue, T C ^e   Ishak, G E ^e   Isabella, C R ^b   Gorden, N ^f   Adkins, J ^g   Boyle, E A ^e   de Lacy, N ^e   O'Day, D ^b   Alswaid, A ^h   Radha Ramadevi, A ⁱ   Lingappa, L ⁱ   Lourenco C ^j   Martorell, L ^k   Garcia Cazorla, A ^l   Ozyurek H ^m   Haliloglu, G ⁿ   Tuysuz, B ^o   Topcu M ⁿ   Chance, P ^b   Parisi, M A ^p   Glass, I A ^b,q   Shendure, J ^e   Doherty, Dan ^b,q   more..

^a UNIVERSITY OF ZURICH   (Switzerland)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d Franciscan Health System   (United States)

^e UNIVERSITY OF WASHINGTON   (United States)

^f UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^g TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^h KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

ⁱ Rainbow Children's Hospital   (India)

^j UNIVERSITY OF SÃO PAULO   (Brazil)

^k HOSPITAL SANT JOAN DE DÉU   (Spain)

^l INSTITUTO DE SALUD CARLOS III   (Spain)

^m ONDOKUZ MAYIS UNIVERSITY   (Turkey)

ⁿ HACETTEPE UNIVERSITY   (Turkey)

^o ISTANBUL UNIVERSITY   (Turkey)

^p EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^q SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADOLESCENT; ADULT; AGGRESSIVENESS; ANXIETY DISORDER; ARTICLE; AUTISM; CHILD; CLEFT PALATE; CLINICAL FEATURE; COHORT ANALYSIS; COLOBOMA; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DEPRESSION; ENCEPHALOCELE; ENDOCRINE DISEASE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE LOSS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HETEROTOPIA; HUMAN; INFANT; INTRON; JOUBERT SYNDROME; KIDNEY DISEASE; KIDNEY POLYCYSTIC DISEASE; LIVER FIBROSIS; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MICROGYRIA; PEDIGREE; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; RETINA DISEASE; RETINA DYSTROPHY; SCOLIOSIS; SEIZURE; STRABISMUS; TONGUE TUMOR; ABNORMALITIES; CEREBELLUM; DNA MUTATIONAL ANALYSIS; DNA SEQUENCE; EYE MALFORMATION; GENETIC ASSOCIATION STUDY; GENETICS; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; RETINA; THEORETICAL MODEL;

ABNORMALITIES, MULTIPLE; CEREBELLUM; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; HUMANS; KIDNEY DISEASES, CYSTIC; MODELS, THEORETICAL; PEDIGREE; RETINA; SEQUENCE ANALYSIS, DNA;

EID: 84938982200     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103087     Document Type: Article

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