Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype

European Journal of Human Genetics

Volumn 25, Issue 1, 2016, Pages 52-58

  Morice Picard, Fanny ^a,b   Benard, Giovanni ^a   Rezvani, Hamid R ^c   Lasseaux, Eulalie ^b   Simon, Delphine ^a   Moutton, Sébastien ^a   Rooryck, Caroline ^a,b   Lacombe, Didier ^a   Baumann, Clarisse ^d   Arveiler, Benoit ^a,b  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b BORDEAUX UNIVERSITY HOSPITAL   (France)

^c INSERM   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; UBIQUITIN PROTEIN LIGASE E3; BRCA1 PROTEIN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; HERC2 PROTEIN, HUMAN; XERODERMA PIGMENTOSUM GROUP A PROTEIN; XPA PROTEIN, HUMAN;

APOPTOSIS; BIOACCUMULATION; CASE REPORT; CELL CYCLE REGULATION; CONFERENCE PAPER; CONTROLLED STUDY; DNA REPAIR; FIBROBLAST; GAIN OF FUNCTION MUTATION; GENE; GENE DELETION; GENE FUNCTION; HECT DOMAIN AND RCC1 LIKE DOMAIN 2 GENE; HUMAN; HUMAN CELL; MAURITANIAN; MENTAL DISEASE; OCA2 GENE; PHENOTYPE; PRIORITY JOURNAL; CELL CYCLE; COMPARATIVE GENOMIC HYBRIDIZATION; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; MALE; METABOLISM; NEWBORN; PATHOLOGY; PATHOPHYSIOLOGY;

BRCA1 PROTEIN; CELL CYCLE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA REPAIR; FIBROBLASTS; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; NEURODEVELOPMENTAL DISORDERS; PHENOTYPE; XERODERMA PIGMENTOSUM GROUP A PROTEIN;

EID: 84992055652     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.139     Document Type: Conference Paper

References (15)

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