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Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… Holoprosencephaly is a relatively common birth defect of the … and roof of the mouth, as well as other birth defects. … Holoprosencephaly (HPE) is a relatively common birth defect … lip and roof of the mouth, as well as other birth defects. Holoprosencephaly is a disorder caused by the failure of the …
Educational Resources
Holoprosencephaly is a developmental disorder that results when the forebrain of the embryo fails to divide and form the right and left halves of the brain.
… Holoprosencephaly … Holoprosencephaly is a developmental disorder that results … divide and form the right and left halves of the brain. … Holoprosencephaly, Developmental Disorder, Birth Defect … Holoprosencephaly is a developmental disorder that results …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… including the identification of genes responsible for holoprosencephaly, for a variety of periodic fevers, for Gray …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… A, Ribeiro-Bicudo LA, Muenke M. Common genetic causes of holoprosencephaly are limited to a small set of … M. Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet . … Odent S, Roessler E, Muenke M. Mutations in ZIC2  in human holoprosencephaly: description of a novel ZIC2 specific …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… and Basic Investigations into Hermansky-Pudlak Syndrome Holoprosencephaly Clinical and Genetic Studies on Holoprosencephaly Immunologic Deficiency Syndrome Genetic …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… Phenotype and Negative 4 Gene Testing in Young Adults with Holoprosencephaly.(Clinical Genetics and Dysmorphology) …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute. ​
… analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish …
Archive
… Third NIH Conference on Holoprosencephaly (HPE): Midline and Laterality Development - About Holoprosencephaly (HPE) … Archive …
Archive
… Third NIH Conference on Holoprosencephaly (HPE): Midline and Laterality Development - Related Holoprosencephaly Links (HPE) … Archive …
NHGRI Director
A selection of NHGRI Director Eric Green's recent interviews, speeches, awards and institute testimony.
… to September NACHGR Meeting July 26 4th NIH Conference on Holoprosencephaly National Institutes of Health Bethesda, Md. …