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15 results
  1. Holoprosencephaly Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1530
    ... M. Novel heterozygous variants in KMT2D associated with holoprosencephaly.Clin Genet. ... National Birth Defects Prevention Study, 1997-2011. Am J Obstet Gynecol. 2019; ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... Hartsfield syndrome is a rare condition characterized by holoprosencephaly, which is an abnormality of brain development, and ... into two halves, the right and left hemispheres. Holoprosencephaly occurs when the brain fails to divide properly. ...
  3. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... 387. Bixler D, Ward R, Gale DD. Agnathia-holoprosencephaly: a developmental field complex involving face and brain. ... 502. Elias DL, Kawamoto HK Jr., Wilson LF. Holoprosencephaly and midline facial anomalies: redefining classification and management. ...
  4. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 207.325 Donohue Syndrome C05.660.207.410 Holoprosencephaly C05.660.207.525 LEOPARD Syndrome C05.660. ... 034.687 Aicardi Syndrome C10.500.034.875 Holoprosencephaly C10.500.142 Central Nervous System Cysts C10. ...
  5. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... together - all Tree - heading Craniosynostoses Acrocephalosyndactylia Donohue Syndrome Holoprosencephaly LEOPARD Syndrome Loeys-Dietz Syndrome Megalencephaly Hemimegalencephaly Maxillofacial ...
  6. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... Tree Hierarchy Tree location C05.660.207.410...........................................Holoprosencephaly C05.660.207.525...........................................LEOPARD Syndrome C05.660. ...
  7. Nevoid Basal Cell Carcinoma Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1151
    ... SUFU have been reported in individuals with nonsyndromic holoprosencephaly (HPE). However, because investigations of several large HPE ... role of these genes in HPE pathogenesis. (See Holoprosencephaly Overview .) Differential Diagnosis Table 3. Genes of Interest ...
  8. PAX2-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1451
    ... 1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys. Am ...
  9. pdf2018NewHeadingsSingleColumn508.pdf 
    https://www.nlm.nih.gov/.../2018NewHeadingsSingleColumn508.pdf
    ... the GLI2 gene are associated with type 9 HOLOPROSENCEPHALY and type 2 PALLISTER-HALL SYNDROME. Tree locations: ...
  10. Brain Malformations | MedlinePlus 
    https://medlineplus.gov/brainmalformations.html
    ... syndrome: MedlinePlus Genetics (National Library of Medicine) Nonsyndromic holoprosencephaly: MedlinePlus Genetics (National Library of Medicine) Opitz G/ ...
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