Mainzer-saldino syndrome is a ciliopathy caused by IFT140 mutations

American Journal of Human Genetics

Volumn 90, Issue 5, 2012, Pages 864-870

  Perrault, Isabelle ^a   Saunier, Sophie ^a   Hanein, Sylvain ^a   Filhol, Emilie ^a   Bizet, Albane A ^a   Collins, Felicity ^b   Salih, Mustafa A M ^c   Gerber, Sylvie ^a   Delphin, Nathalie ^a   Bigot, Karine ^d   Orssaud, Christophe ^e   Silva, Eduardo ^f   Baudouin, Véronique ^g   Oud, MacHteld M ^h   Shannon, Nora ⁱ   Le Merrer, Martine ^a   Roche, Olivier ^e   Pietrement, Christine ^j   Goumid, Jamal ^k   Baumann, Clarisse ^k   Bole Feysot, Christine ^e   Nitschke, Patrick ^e   Zahrate, Mohammed ^e   Beales, Philip ^l   Arts, Heleen H ^h   Munnich, Arnold ^a   Kaplan, Josseline ^a   Antignac, Corinne ^a   Cormier Daire, Valérie ^a   Rozet, Jean Michel ^a   more..

^a INSERM   (France)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c KING SAUD UNIVERSITY   (Saudi Arabia)

^d Centre d'Exploration et de Ressources Thérapeutiques en Ophtalmologie CERTO   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^g Section of Radiology   (France)

^h RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^j AMERICAN MEMORIAL HOSPITAL   (France)

^k HÔPITAL ROBERT DEBRÉ   (France)

^l UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; INTRAFLAGELLAR TRANSPORT 140 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTOSOMAL DISORDER; CELL FUNCTION; CHILD; CHRONIC KIDNEY FAILURE; CILIATED EPITHELIUM; CILIOPATHY; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE SEVERITY; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HISTOPATHOLOGY; HUMAN; HUMAN CELL; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; RETINA DYSTROPHY; RISK FACTOR; SALDINO MAINZER SYNDROME; SCHOOL CHILD;

ADOLESCENT; ALLELES; CARRIER PROTEINS; CEREBELLAR ATAXIA; CHILD; CHILD, PRESCHOOL; FEMALE; FIBROBLASTS; HUMANS; MALE; MUTATION; PEDIGREE; PROTEIN TRANSPORT; RETINITIS PIGMENTOSA;

EID: 84860774997     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.03.006     Document Type: Article

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