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55 results
  1. FGFR1-Related Hartsfield Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK349073
    ... anomalies, in particular intracranial and spinal lipomas. Differential Diagnosis Holoprosencephaly (HPE). See Holoprosencephaly Overview . Ectrodactyly, ectodermal dysplasia, cleft ...
  2. Holoprosencephaly Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1530
    ... Crespo L, Michia C, Igarzabal L, Gadow E. Holoprosencephaly at prenatal diagnosis: Analysis of 28 cases regarding etiopathogenic diagnoses. Prenatal Diagnosis. 2011;31:887–891. [ PubMed : ... evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Semin Med ...
  3. Nevoid Basal Cell Carcinoma Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1151
    ... role of these genes in HPE pathogenesis. (See Holoprosencephaly Overview .) Differential Diagnosis Table 3. Genes of Interest in the Differential ...
  4. PTCH1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ptch1
    ... for normal brain cell patterning. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain ... for normal brain cell patterning. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain ...
  5. Nonsyndromic holoprosencephaly: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/nonsyndromic-holoprosencephaly
    ... move to their proper position. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain ... Gene: ... a gene mutation will develop signs and symptoms of the condition. In some cases, an affected ...
  6. SIX3 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/six3
    ... not separate into two hemispheres. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain ...
  7. ZIC2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/zic2
    ... not separate into two hemispheres. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain ...
  8. SHH gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/shh
    ... move to their proper position. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain ...
  9. TGIF1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/tgif1
    ... not separate into two hemispheres. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain ...
  10. PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK573670
    ... holoprosencephaly, GU malformation) Pseudotrisomy 13 syndrome (OMIM 264480 ) (holoprosencephaly) Management No clinical practice guidelines for PPP1R12A -related UBMS have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
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