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Results 1 - 6 of 6 for Holoprosencephaly 4
  1. Nonsyndromic holoprosencephaly 
    ... Organization for Rare Disorders (NORD) HOLOPROSENCEPHALY 3; HPE3 HOLOPROSENCEPHALY 4; HPE4 HOLOPROSENCEPHALY 2; HPE2 HOLOPROSENCEPHALY 1; HPE1 HOLOPROSENCEPHALY ...
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly - Genetics
  2. PTCH1 gene 
    ... the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet. 2002 Apr;110(4):297-301. doi: 10.1007/s00439-002-0695- ...
    https://medlineplus.gov/genetics/gene/ptch1 - Genetics
  3. TGIF1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/tgif1 - Genetics
  4. SIX3 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/six3 - Genetics
  5. ZIC2 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/zic2 - Genetics
  6. FGFR1 gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics