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Results 1 - 10 of 18 for Lissencephaly 5
  1. Isolated lissencephaly sequence 
    ... WB. The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. Epilepsia. 2010 Feb;51 Suppl 1:5-9. doi: 10.1111/j.1528-1167.2009. ...
    https://medlineplus.gov/.../isolated-lissencephaly-sequence - Genetics
  2. X-linked lissencephaly with abnormal genitalia 
    ... U, Winkler J. ARX mutations in X-linked lissencephaly with abnormal genitalia. Neurology. 2003 Jul 22;61(2):232-5. doi: 10.1212/01.wnl.0000079371.19562.ba. ...
    https://medlineplus.gov/...ked-lissencephaly-with-abnormal-genitalia - Genetics
  3. Lissencephaly with cerebellar hypoplasia 
    ... H, Walsh CA. The role of RELN in lissencephaly and neuropsychiatric disease. Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5;144B(1):58-63. doi: 10.1002/ajmg. ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  4. ARX gene 
    ... U, Winkler J. ARX mutations in X-linked lissencephaly with abnormal genitalia. Neurology. 2003 Jul 22;61(2):232-5. doi: 10.1212/01.wnl.0000079371.19562.ba. ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  5. RELN gene 
    ... H, Walsh CA. The role of RELN in lissencephaly and neuropsychiatric disease. Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5;144B(1):58-63. doi: 10.1002/ajmg. ...
    https://medlineplus.gov/genetics/gene/reln - Genetics
  6. PAFAH1B1 gene 
    ... kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003 Apr;72(4):918-30. doi: 10.1086/374320. Epub 2003 Mar 5. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/pafah1b1 - Genetics
  7. Miller-Dieker syndrome 
    ... kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003 Apr;72(4):918-30. doi: 10.1086/374320. Epub 2003 Mar 5. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/condition/miller-dieker-syndrome - Genetics
  8. Chromosome 17 
    ... kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003 Apr;72(4):918-30. doi: 10.1086/374320. Epub 2003 Mar 5. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  9. YWHAE gene 
    ... with a YWHAE gene deletion do not have lissencephaly but tend to have other brain abnormalities. ... 5-monooxygenase activation protein, epsilon tyrosine 3-monooxygenase/tryptophan ...
    https://medlineplus.gov/genetics/gene/ywhae - Genetics
  10. DCX gene 
    ... DCX gene have been found to cause isolated lissencephaly sequence (ILS). This condition is characterized by abnormal ... results in the brain having a smooth surface (lissencephaly) instead of its normal folds and grooves. Individuals ...
    https://medlineplus.gov/genetics/gene/dcx - Genetics
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