TY  - GEN
AU  - Niida,Yo
AU  - Inoue,Mika
AU  - Ozaki,Mamoru
AU  - Takase,Etsuko
TI  - Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model
SN  - 1424-859X
PY  - 2018///0220
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Acrocephalosyndactylia
KW  - Adolescent
KW  - Child, Preschool
KW  - Chromosomes, Human, Pair 2
KW  - Chromosomes, Human, Pair 7
KW  - Cleft Palate
KW  - Dwarfism
KW  - Female
KW  - Glucose Intolerance
KW  - Hedgehog Proteins
KW  - physiology
KW  - Hemangioma, Cavernous, Central Nervous System
KW  - Humans
KW  - Intellectual Disability
KW  - Karyotyping
KW  - Models, Biological
KW  - Morphogenesis
KW  - Nerve Tissue Proteins
KW  - deficiency
KW  - Nuclear Proteins
KW  - Oligonucleotide Array Sequence Analysis
KW  - Phenotype
KW  - Sequence Deletion
KW  - Signal Transduction
KW  - Syndrome
KW  - Zinc Finger Protein Gli2
KW  - Zinc Finger Protein Gli3
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1159/000485227
ER  -