KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Nature Genetics

Volumn 43, Issue 6, 2011, Pages 601-606

  Putoux, Audrey ^a,b   Thomas, Sophie ^a,b   Coene, Karlien L M ^c   Davis, Erica E ^d,e   Alanay, Yasemin ^f   Ogur, Gönöl ^g   Uz, Elif ^f   Buzas, Daniela ^h   Gomes, Céline ^a   Patrier, Sophie ⁱ   Bennett, Christopher L ^g   Elkhartoufi, Nadia ^a   Frison, Marie Hélène Saint ^j   Rigonnot, Luc ^h   Joyé, Nicole ^i,k   Pruvost, Solenn ^a   Utine, Gulen Eda ^f   Boduroglu, Koray ^f   Nitschke, Patrick ^b   Fertitta, Laura ^a   Thauvin Robinet, Christel ^l   Munnich, Arnold ^a,b   Cormier Daire, Valérie ^a,b   Hennekam, Raoul ^m   Colin, Estelle ⁿ   Akarsu, Nurten Ayse ^f   Bole Feysot, Christine ^a   Cagnard, Nicolas ^b   Schmitt, Alain ^o   Goudin, Nicolas ^p   Lyonnet, Stanislas ^a,b   Encha Razavi, Férechté ^a,b   Siffroi, Jean Pierre ^i,k   Winey, Mark ^q   Katsanis, Nicholas ^d,e   Gonzales, Marie ^i,k   Vekemans, Michel ^a,b   Beales, Philip L ^r   Attié Bitach, Tania ^a,b   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d DUKE UNIVERSITY   (United States)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

^f HACETTEPE UNIVERSITY   (Turkey)

^g ONDOKUZ MAYIS UNIVERSITY   (Turkey)

^h Centre Hospitalier (CH) Sud Francilien   (France)

ⁱ ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^j Service d'Anatomie et Cytologie Pathologiques   (France)

^k SORBONNE UNIVERSITÉ   (France)

^l DIJON UNIVERSITY HOSPITAL   (France)

^m UNIVERSITY OF AMSTERDAM   (Netherlands)

ⁿ ANGERS UNIVERSITY HOSPITAL   (France)

^o INSTITUT COCHIN   (France)

^p IFR 94   (France)

^q UNIVERSITY OF COLORADO   (United States)

^r UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; PROTEIN KIF7; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GLI3; UNCLASSIFIED DRUG;

ACROCALLOSAL SYNDROME; ALLELE; ANIMAL CELL; ARTICLE; BRAIN MALFORMATION; CHROMOSOME 15Q; CLEFT PALATE; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; EXENCEPHALY; FETAL HYDROLETHALUS; GENE DUPLICATION; GENE INTERACTION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENOME ANALYSIS; HUMAN; IMMUNOBLOTTING; IN VIVO STUDY; MISSENSE MUTATION; MOLECULAR DYNAMICS; MULTIPLE MALFORMATION SYNDROME; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN TARGETING; RNA SPLICING; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION REGULATION;

ACROCALLOSAL SYNDROME; ADOLESCENT; CEREBRAL VENTRICLES; CHILD; CHILD, PRESCHOOL; CILIA; CONSANGUINITY; FEMALE; HAND DEFORMITIES, CONGENITAL; HEART DEFECTS, CONGENITAL; HEDGEHOG PROTEINS; HUMANS; HYDROCEPHALUS; INFANT; KINESIN; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PEDIGREE;

ERINACEIDAE;

EID: 79957618775     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.826     Document Type: Article

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