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7 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. 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 ...
  5. 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 ...
  6. 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/ ...
  7. Aicardi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1381
    ... a 47, XXY male neonate with lissencephaly and holoprosencephaly. J Neurol Sci. 2009;278:138–40. [ PubMed : ...