TY  - GEN
AU  - Lim,Byung Chan
AU  - Park,Woong Yang
AU  - Seo,Eul-Ju
AU  - Kim,Ki Joong
AU  - Hwang,Yong Seung
AU  - Chae,Jong Hee
TI  - 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
SN  - 1708-8283
PY  - 2011///0824
KW  - Ataxia Telangiectasia Mutated Proteins
KW  - Blepharophimosis
KW  - complications
KW  - Blepharoptosis
KW  - Cell Cycle Proteins
KW  - genetics
KW  - Chromosomes, Human, Pair 3
KW  - Dandy-Walker Syndrome
KW  - Developmental Disabilities
KW  - Forkhead Box Protein L2
KW  - Forkhead Transcription Factors
KW  - Humans
KW  - Infant
KW  - Intellectual Disability
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Nerve Tissue Proteins
KW  - Protein Serine-Threonine Kinases
KW  - Sequence Deletion
KW  - Transcription Factors
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1177/0883073810384996
ER  -