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Results 1 - 10 of 11 for Holoprosencephaly 10
  1. Nonsyndromic holoprosencephaly 
    ... 25 to 50 percent of all cases of holoprosencephaly, which affects an estimated 1 in 10,000 newborns. Mutations in 11 genes have been ... Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. Citation on PubMed ...
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly - Genetics
  2. SIX3 gene 
    ... hedgehog expression in the ventral forebrain and causes holoprosencephaly. Dev Cell. 2008 Aug;15(2):236-47. doi: 10.1016/j.devcel.2008.07.003. Citation on ...
    https://medlineplus.gov/genetics/gene/six3 - Genetics
  3. SHH gene 
    ... Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. Citation on PubMed ... mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet. ... doi: 10.1093/hmg/8.13.2479. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/shh - Genetics
  4. TGIF1 gene 
    ... Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. Citation on PubMed ... Functional analysis of mutations in TGIF associated with holoprosencephaly. ... Metab. 2007 Jan;90(1):97-111. doi: 10.1016/j.ymgme.2006.07.011. Epub 2006 ...
    https://medlineplus.gov/genetics/gene/tgif1 - Genetics
  5. ZIC2 gene 
    ... Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. Citation on PubMed ... Roessler E, Muenke M. The molecular genetics of holoprosencephaly. Am J Med ... Feb 15;154C(1):52-61. doi: 10.1002/ajmg.c.30236. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/zic2 - Genetics
  6. Hartsfield syndrome 
    ... mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. J Med Genet. 2013 Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603. Epub 2013 Jun 28. ...
    https://medlineplus.gov/genetics/condition/hartsfield-syndrome - Genetics
  7. PTCH1 gene 
    ... the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet. 2002 Apr;110(4):297-301. doi: 10.1007/s00439-002-0695-5. Epub 2002 Mar ...
    https://medlineplus.gov/genetics/gene/ptch1 - Genetics
  8. FGFR1 gene 
    ... mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. J Med Genet. 2013 Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603. Epub 2013 Jun 28. ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  9. Learning about Holoprosencephaly (HPE) From the National Institutes of Health (National Human Genome Research Institute)  
    Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
    https://www.genome.gov/Genetic-Disorders/Holoprosencephaly - External Health Links
  10. FGF8 gene 
    ... Health Condition MedlinePlus Genetics provides information about Nonsyndromic holoprosencephaly More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/fgf8 - Genetics
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