De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, dandy-walker malformation, and global developmental delay

Journal of Child Neurology

Volumn 26, Issue 5, 2011, Pages 615-618

  Lim, Byung Chan ^a   Park, Woong Yang ^a   Seo, Eul Ju ^b   Kim, Ki Joong ^a   Hwang, Yong Seung ^a   Chae, Jong Hee ^a  

^a Seoul National University Children's Hospital   (South Korea)

^b University of Ulsan College of Medicine   (South Korea)

Author keywords

ATR; blepharophimosis ptosis epicanthus inversus syndrome; Dandy Walker malformation; developmental delay; FOXL2; interstitial deletion 3q; ZIC1; ZIC4

Indexed keywords

ATR PROTEIN; CHROMOSOME PROTEIN; PROTEIN FOXL2; PROTEIN ZIC1; PROTEIN ZINC4; UNCLASSIFIED DRUG;

ARTICLE; BLEPHAROPHIMOSIS; CASE REPORT; CHILD; CHROMOSOME 3Q; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; DANDY WALKER SYNDROME; DEVELOPMENTAL DISORDER; EYELID DISEASE; GENE DELETION; GENETIC ASSOCIATION; HUMAN; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS;

BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CELL CYCLE PROTEINS; CHROMOSOMES, HUMAN, PAIR 3; DANDY-WALKER SYNDROME; DEVELOPMENTAL DISABILITIES; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; NERVE TISSUE PROTEINS; PROTEIN-SERINE-THREONINE KINASES; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 79955633683     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810384996     Document Type: Article

References (11)

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