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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 
    ... have an abnormality in their brain development called holoprosencephaly. They also have a malformation of the hands ... is unclear how these changes lead specifically to holoprosencephaly and split hand/foot in people with Hartsfield ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics