Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

American Journal of Human Genetics

Volumn 94, Issue 1, 2014, Pages 73-79

  Shaheen, Ranad ^a   Shamseldin, Hanan E ^a   Loucks, Catrina M ^b   Seidahmed, Mohammed Zain ^c   Ansari, Shinu ^a   Ibrahim Khalil, Mohamed ^c   Al Yacoub, Nadya ^a   Davis, Erica E ^d   Mola, Natalie A ^d   Szymanska, Katarzyna ^e   Herridge, Warren ^e   Chudley, Albert E ^f   Chodirker, Bernard N ^f   Schwartzentruber, Jeremy ^g   Majewski, Jacek ^g   Katsanis, Nicholas ^d   Poizat, Coralie ^a   Johnson, Colin A ^e   Parboosingh, Jillian ^b,h   Boycott, Kym M ⁱ   Innes, A Micheil ^b,h   Alkuraya, Fowzan S ^a,j   more..

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b UNIVERSITY OF CALGARY   (Canada)

^c SECURITY FORCES HOSPITAL   (Saudi Arabia)

^d DUKE UNIVERSITY   (United States)

^e ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^f UNIVERSITY OF MANITOBA   (Canada)

^g MCGILL UNIVERSITY   (Canada)

^h ALBERTA CHILDREN'S HOSPITAL   (Canada)

ⁱ CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^j ALFAISAL UNIVERSITY   (Saudi Arabia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR GLI1; CELL PROTEIN; CORE PROTEIN; CSPP1 PROTEIN; DNA; UNCLASSIFIED DRUG;

ANOPHTHALMIA; ANTERIOR FONTANEL; ARTICLE; ATAXIA; CELL STRUCTURE; CENTROSOME; CEREBELLUM VERMIS; CHILD; CILIARY MOTILITY; CISTERNA MAGNA; CLINICAL ARTICLE; CONGENITAL MALFORMATION; CSPP1 GENE; CYST; DANDY WALKER SYNDROME; ENCEPHALOCELE; EUKARYOTIC FLAGELLUM; FEMALE; FETUS; FIBROBLAST; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HIGH THROUGHPUT SEQUENCING; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYDRANENCEPHALY; INTESTINE ATRESIA; JOUBERT SYNDROME; KIDNEY MALFORMATION; KINETOSOME; MALE; MECKEL SYNDROME; MESENCEPHALON; MISSENSE MUTATION; MOLAR TOOTH; MUSCLE HYPOTONIA; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PERINATAL DEATH; PHENOTYPE; POLYMERASE CHAIN REACTION; POSTERIOR FOSSA; POSTERIOR FOSSA CYST; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SCHOOL CHILD; SIGNAL TRANSDUCTION; SPONTANEOUS ABORTION; STRABISMUS; SUPERIOR CEREBELLAR PEDUNCLE; TETRATRICOPEPTIDE REPEAT DOMAIN 7A GENE; TRACHEOESOPHAGEAL FISTULA; DNA EXTRACTION; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GERMLINE MUTATION; STILLBIRTH;

ERINACEIDAE;

EID: 84891834165     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.11.010     Document Type: Article

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