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15 results
  1. ... AM, et al. Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study. American Journal of Medical Genetics. 2010 Feb ...
  2. ... variants in five of 100 unrelated probands with holoprosencephaly . The authors hypothesized that the pathogenic missense variants ... four further PTCH1 pathogenic missense variants associated with holoprosencephaly. A non- recurrent deletion (i.e., a deletion ...
  3. ... 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. ...
  4. ... 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. ... together - all Tree - heading Craniosynostoses Acrocephalosyndactylia Donohue Syndrome Holoprosencephaly LEOPARD Syndrome Loeys-Dietz Syndrome Megalencephaly Hemimegalencephaly Maxillofacial ...
  6. ... Tree Hierarchy Tree location C05.660.207.410...........................................Holoprosencephaly C05.660.207.525...........................................LEOPARD Syndrome C05.660. ...
  7. ... 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. ...
  8. ... 1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys. Am ...
  9. ... the GLI2 gene are associated with type 9 HOLOPROSENCEPHALY and type 2 PALLISTER-HALL SYNDROME. Tree locations: ...
  10. ... April 25, 2005; Last Update: January 22, 2015. Holoprosencephaly Overview Cedrik Tekendo-Ngongang, Maximilian Muenke, and Paul ... 2009; 7(3):80-129. Review Medical Error Prevention [StatPearls. 2020] Review Medical Error Prevention Rodziewicz TL, ...
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