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Holoprosencephaly 4
- ... Organization for Rare Disorders (NORD) HOLOPROSENCEPHALY 3; HPE3 HOLOPROSENCEPHALY 4; HPE4 HOLOPROSENCEPHALY 2; HPE2 HOLOPROSENCEPHALY 1; HPE1 HOLOPROSENCEPHALY ...
- ... the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet. 2002 Apr;110(4):297-301. doi: 10.1007/s00439-002-0695- ...
- ... V. Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet. 2003 Feb;112(2):131-4. doi: 10.1007/s00439-002-0862-8. Epub ...
- ... schizencephaly and further expand the clinical spectrum of holoprosencephaly. Hum Genet. 2010 Mar;127(5):555-61. doi: 10.1007/s00439-010-0797-4. Epub 2010 Feb 16. Citation on PubMed or ...
- ... David V, Muenke M. The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. Hum Mutat. 2009 Apr;30(4):E541-54. doi: 10.1002/humu.20982. Citation ...
- ... with Hartsfield syndrome, a rare condition characterized by holoprosencephaly, which is an abnormality of brain development, and ... is unclear how these changes lead specifically to holoprosencephaly and ectrodactyly, the characteristic features of Hartsfield syndrome. ...
- Brain Malformations/Specifics ... Brain Malformations ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Agenesis ...
- Central Nervous System: The Brain and Spinal Cord (Nemours Foundation)... coordinations, bell's palsy, brain tumors, epilepsy, infantile spasms, holoprosencephaly, seizures, mental illnesses, depressions, headaches, migraines, meningitis, encephalitis, ...