Interstitial deletion in 3q in a patient with blepharophimosis-ptosis- epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation, and growth delay: Clinical report and review of the literature

American Journal of Medical Genetics

Volumn 137 A, Issue 1, 2005, Pages 81-87

  De Ru, M H ^a   Gille, J J P ^a   Nieuwint, A W M ^a   Bijlsma, J B ^b   Van Der Blij, J F ^b   Van Hagen, J M ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Location Alkmaar   (Netherlands)

Author keywords

3q23; ATR; Blepharophimosis; BPES; Contiguous gene syndrome; Epicanthus inversus syndrome; FOXL2; Growth delay; Interstitial deletion; Mental retardation; Microcephaly; Ptosis; Seckel syndrome

Indexed keywords

CHECKPOINT KINASE RAD3;

ATAXIA TELANGIECTASIA; ATR GENE; AUTOSOMAL RECESSIVE INHERITANCE; BLEPHAROPHIMOSIS; BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME; CHROMOSOME 3Q; CHROMOSOME ANALYSIS; DNA DETERMINATION; FOXL2 GENE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GROWTH RETARDATION; HUMAN; KARYOTYPE; MARKER GENE; MENTAL DEFICIENCY; MICROCEPHALY; PRIORITY JOURNAL; REVIEW;

ABNORMALITIES, MULTIPLE; BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CELL CYCLE PROTEINS; CHILD; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; DNA-BINDING PROTEINS; EYELIDS; FORKHEAD TRANSCRIPTION FACTORS; GENE DELETION; GROWTH DISORDERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MENTAL RETARDATION; MICROCEPHALY; PROTEIN-SERINE-THREONINE KINASES; SYNDROME; TRANSCRIPTION FACTORS;

ATAXIA TELANGIECTASIA;

EID: 23344436523     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30786     Document Type: Review

References (36)

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