Molecular testing in holoprosencephaly
Author:
Affiliation:
1. Medical Genetics Branch, National Human Genome Research InstituteThe National Institutes of HealthBethesda Maryland
Funder
National Human Genome Research Institute
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31617
Reference46 articles.
1. Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors
2. GLI2 mutations typically result in pituitary anomalies with or without postaxial polydactyly
3. Pathogenic mutations inGLI2cause a specific phenotype that is distinct from holoprosencephaly
4. Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes
5. Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype
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