ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome

Human Molecular Genetics

Volumn 22, Issue 13, 2013, Pages 2652-2661

  Ghoumid, Jamal ^a,b,c   Drevillon, Loïc ^a,b   Alavi Naini, Seyedeh Maryam ^b,d   Bondurand, Nadège ^b,c   Rio, Marlène ^e   Briand Suleau, Audrey ^a,b   Nasser, Mayssa ^a   Goodwin, Linda ^f   Raymond, Patrick ^a   Yanicostas, Constantin ^b,d   Goossens, Michel ^a,b,c   Lyonnet, Stanislas ^b,e   Mowat, David ^g,h   Amiel, Jeanne ^b,e   Soussi Yanicostas, Nadia ^b,d   Giurgea, Irina ^a,b,c  

^a HENRI MONDOR HOSPITAL   (France)

^b INSERM   (France)

^c UNIVERSITÉ PARIS EST CRÉTEIL   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f NEPEAN HOSPITAL   (Australia)

^g SYDNEY CHILDREN'S HOSPITAL   (Australia)

^h UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; TRANSCRIPTION FACTOR ZEB2; UNCLASSIFIED DRUG; UVOMORULIN; ZINC FINGER PROTEIN;

ANIMAL EXPERIMENT; ARTICLE; CASE REPORT; CONTROLLED STUDY; EMBRYO; GENE TARGETING; GENETIC ANALYSIS; GESTALT THERAPY; HUMAN; IN VITRO STUDY; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MOWAT WILSON SYNDROME; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; ZEBRA FISH; ZINC FINGER MOTIF;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; CELL LINE; DISEASE MODELS, ANIMAL; DNA; FACIES; FEMALE; GENE ORDER; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; PROTEIN BINDING; REPRESSOR PROTEINS; TRANSCRIPTION, GENETIC; ZEBRAFISH; ZINC FINGERS;

DANIO RERIO;

EID: 84878901270     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt114     Document Type: Article

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