Syndromes associated with holoprosencephaly
Author:
Affiliation:
1. Medical Genetics Branch, National Human Genome Research InstituteNational Institutes of HealthBethesda Maryland
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31620
Reference85 articles.
1. Prenatal diagnosis of the 13q-syndrome through three-dimensional ultrasonography: a case report
2. Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome.
3. Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors
4. Down syndrome (trisomy 21) with premaxillary agenesis and semilobar holoprosencephaly
5. Pathogenic mutations inGLI2cause a specific phenotype that is distinct from holoprosencephaly
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