Mutations in CSPP1 lead to classical joubert syndrome

American Journal of Human Genetics

Volumn 94, Issue 1, 2014, Pages 80-86

  Akizu, Naiara ^a,b   Silhavy, Jennifer L ^a,b   Rosti, Rasim Ozgur ^a,b   Scott, Eric ^a,b   Fenstermaker, Ali G ^a,b   Schroth, Jana ^a,b   Zaki, Maha S ^c   Sanchez, Henry ^d   Gupta, Neerja ^e   Kabra, Madhulika ^e   Kara, Majdi ^f   Ben Omran, Tawfeg ^g   Rosti, Basak ^a,b   Guemez Gamboa, Alicia ^a,b   Spencer, Emily ^a,b   Pan, Roger ^a,b   Cai, Na ^a,b   Abdellateef, Mostafa ^a,b   Gabriel, Stacey ^h   Halbritter, Jan ^b,i   Hildebrandt, Friedhelm ^b,i   Van Bokhoven, Hans ^j   Gunel, Murat ^k   Gleeson, Joseph G ^a,b   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Howard Hughes Medical Institute   (Egypt)

^c NATIONAL RESEARCH CENTRE   (Egypt)

^d PALO ALTO MEDICAL FOUNDATION   (United States)

^e ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^f Tripoli Children's Hospital   (Libyan Arab Jamahiriya)

^g HAMAD MEDICAL CORPORATION   (Qatar)

^h BROAD INSTITUTE OF MIT AND HARVARD   (United States)

ⁱ BOSTON CHILDREN S HOSPITAL   (United States)

^j RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^k YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CENTROSOME; CSPP 1 GENE; EUKARYOTIC FLAGELLUM; FIBROBLAST; GENE; GENE MUTATION; GENETIC CODE; GENOME; HUMAN; JOUBERT SYNDROME; KIDNEY; LIVER; NEPHRONOPHTHISIS; NERVOUS SYSTEM DEVELOPMENT; NERVOUS TISSUE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RETINA; SPINDLE POLE; CELL CYCLE PROGRESSION; CILIARY MOTILITY; COHORT ANALYSIS; CSPP1 GENE; GENE FREQUENCY; HEARING IMPAIRMENT; IN VITRO STUDY; MITOSIS; PHENOTYPE; RECESSIVE INHERITANCE;

EID: 84891834962     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.11.015     Document Type: Article

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