Haploinsufficiency of XPO1 and USP34 by a de novo 230kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms

European Journal of Medical Genetics

Volumn 57, Issue 9, 2014, Pages 513-519

  Fannemel, Madeleine ^a   Barøy, Tuva ^a   Holmgren, Asbjørn ^a   Rødningen, Olaug K ^a   Haugsand, Trine M ^b   Hansen, Børre ^b   Frengen, Eirik ^a   Misceo, Doriana ^a  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b AKERSHUS UNIVERSITY HOSPITAL   (Norway)

Author keywords

2p15p16.1 Deletion syndrome; Congenital anomalies; Dysmorphic features; Intellectual disability; USP34; XPO1 or CRM1

Indexed keywords

DEUBIQUITINASE; EXPORTIN 1; GENOMIC DNA; SMALL NUCLEOLAR RNA; UBIQUITIN SPECIFIC PROTEASE 34; UNCLASSIFIED DRUG; CELL RECEPTOR; EXPORTIN 1 PROTEIN; KARYOPHERIN; USP34 PROTEIN, HUMAN;

3' UNTRANSLATED REGION; ADAPTIVE BEHAVIOR; ADULT; ANTHROPOMETRIC PARAMETERS; ANXIETY; ARTICLE; CASE REPORT; CHILD DEVELOPMENT; CHROMOSOME 17Q; CHROMOSOME 2P; CHROMOSOME 9P; CHROMOSOME DELETION; CHROMOSOME DELETION 2P15; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPULSIVE PERSONALITY DISORDER; CRANIOFACIAL MALFORMATION; DISEASE SEVERITY; EDUCATION PROGRAM; EXON; FACE DYSMORPHIA; FUNNEL CHEST; GENE; GENE DELETION; GENE REARRANGEMENT; HAPLOINSUFFICIENCY; HUMAN; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; LANGUAGE DEVELOPMENT; MALE; MCCARTHY SCALES OF CHILDREN'S ABILITIES; PALPEBRAL FISSURE ANOMALY; PERCEPTION DEAFNESS; POLYDIPSIA; PTOSIS; RETROGNATHIA; SCOLIOSIS; SNORA70B GENE; WECHSLER INTELLIGENCE SCALE; YOUNG ADULT; CHROMOSOME 2; FACIES; GENETIC HETEROGENEITY; GENETICS; KARYOTYPING; PHENOTYPE;

ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL ABNORMALITIES; FACIES; GENETIC HETEROGENEITY; HAPLOINSUFFICIENCY; HUMANS; INTELLECTUAL DISABILITY; KARYOPHERINS; KARYOTYPING; MALE; PHENOTYPE; RECEPTORS, CYTOPLASMIC AND NUCLEAR; UBIQUITIN-SPECIFIC PROTEASES; YOUNG ADULT;

EID: 84925960491     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.05.008     Document Type: Article

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