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Results 1 - 10 of 13 for Lissencephaly 8
  1. PAFAH1B1 gene 
    ... Beldjord C, Bahi-Buisson N. LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. Arch Neurol. 2009 Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149. ...
    https://medlineplus.gov/genetics/gene/pafah1b1 - Genetics
  2. Isolated lissencephaly sequence 
    ... Beldjord C, Bahi-Buisson N. LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. Arch Neurol. 2009 Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149. ...
    https://medlineplus.gov/.../isolated-lissencephaly-sequence - Genetics
  3. TUBB2B gene 
    ... detects mutations in 81% of 811 patients with lissencephaly. Genet Med. 2018 Nov;20(11):1354-1364. doi: 10.1038/gim.2018.8. Epub 2018 Apr 19. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  4. X-linked lissencephaly with abnormal genitalia 
    ... the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG). ... Hum Mutat. 2010 Aug;31(8):889-900. doi: 10.1002/humu.21288. Citation ...
    https://medlineplus.gov/...ked-lissencephaly-with-abnormal-genitalia - Genetics
  5. 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
  6. Walker-Warburg syndrome 
    ... condition typically have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain lacks ... that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. Less is ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  7. ADGRG1 gene 
    ... polymicrogyria (BFPP). Biochem Biophys Res Commun. 2008 Feb 8;366(2):314-20. doi: 10.1016/j. ... S A. 2006 Jun 13;103(24):9023-8. doi: 10.1073/pnas.0602681103. Epub 2006 Jun ...
    https://medlineplus.gov/genetics/gene/adgrg1 - Genetics
  8. ARX gene 
    ... in the ARX gene can cause X-linked lissencephaly with abnormal genitalia (XLAG). This condition is characterized ... results in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. Males ...
    https://medlineplus.gov/genetics/gene/arx - Genetics
  9. Chromosome 17 
    ... 10. doi: 10.1086/380648. Epub 2003 Dec 8. Citation on PubMed or Free article on ... lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  10. FKTN gene 
    ... brain. This causes a brain abnormality called cobblestone lissencephaly, in which the surface of the brain appears ... J Med Genet. 2003 Nov;40(11):845-8. doi: 10.1136/jmg.40.11.845. No ...
    https://medlineplus.gov/genetics/gene/fktn - Genetics
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