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.

Lim, Byung Chan

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. [electronic resource] - Journal of child neurology May 2011 - 615-8 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1708-8283

10.1177/0883073810384996 doi


Ataxia Telangiectasia Mutated Proteins
Blepharophimosis--complications
Blepharoptosis
Cell Cycle Proteins--genetics
Chromosomes, Human, Pair 3--genetics
Dandy-Walker Syndrome--complications
Developmental Disabilities--complications
Forkhead Box Protein L2
Forkhead Transcription Factors--genetics
Humans
Infant
Intellectual Disability--genetics
Magnetic Resonance Imaging
Male
Nerve Tissue Proteins--genetics
Protein Serine-Threonine Kinases--genetics
Sequence Deletion--genetics
Transcription Factors--genetics