Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model. [electronic resource]
Producer: 20180220Description: 56-65 p. digitalISSN:- 1424-859X
- Abnormalities, Multiple -- genetics
- Acrocephalosyndactylia -- genetics
- Adolescent
- Child, Preschool
- Chromosomes, Human, Pair 2 -- genetics
- Chromosomes, Human, Pair 7 -- genetics
- Cleft Palate -- genetics
- Dwarfism -- genetics
- Female
- Glucose Intolerance -- genetics
- Hedgehog Proteins -- physiology
- Hemangioma, Cavernous, Central Nervous System -- genetics
- Humans
- Intellectual Disability -- genetics
- Karyotyping
- Models, Biological
- Morphogenesis -- genetics
- Nerve Tissue Proteins -- deficiency
- Nuclear Proteins -- deficiency
- Oligonucleotide Array Sequence Analysis
- Phenotype
- Sequence Deletion
- Signal Transduction -- genetics
- Syndrome
- Zinc Finger Protein Gli2 -- deficiency
- Zinc Finger Protein Gli3 -- deficiency
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Publication Type: Case Reports; Journal Article
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