Lissencephaly 3

Common Name(s)

Lissencephaly 3

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lissencephaly 3" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lissencephaly 3" returned 4 free, full-text research articles on human participants. First 3 results:

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
 

Author(s): Carlos Cardoso, Richard J Leventer, Heather L Ward, Kazuhito Toyo-Oka, June Chung, Alyssa Gross, Christa L Martin, Judith Allanson, Daniela T Pilz, Ann H Olney, Osvaldo M Mutchinick, Shinji Hirotsune, Anthony Wynshaw-Boris, William B Dobyns, David H Ledbetter

Journal: Am. J. Hum. Genet.. 2003 Apr;72(4):918-30.

 

Deletions of 17p13.3, including the LIS1 gene, result in the brain malformation lissencephaly, which is characterized by reduced gyration and cortical thickening; however, the phenotype can vary from isolated lissencephaly sequence (ILS) to Miller-Dieker syndrome (MDS). At the clinical ...

Last Updated: 21 Mar 2003

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Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation.
 

Author(s): N Matsumoto, D T Pilz, J A Fantes, K Kittikamron, D H Ledbetter

Journal: J. Med. Genet.. 1998 Oct;35(10):829-32.

 

X linked lissencephaly and subcortical band heterotopia (XLIS/SBH) is a disorder of cortical development, which causes classical lissencephaly with severe mental retardation and epilepsy in hemizygous males and SBH associated with milder mental retardation and epilepsy in heterozygous ...

Last Updated: 5 Jan 1999

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A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
 

Author(s): S S Chong, S D Pack, A V Roschke, A Tanigami, R Carrozzo, A C Smith, W B Dobyns, D H Ledbetter

Journal: Hum. Mol. Genet.. 1997 Feb;6(2):147-55.

 

Miller-Dieker syndrome (MDS) is a multiple malformation syndrome characterized by classical lissencephaly and a characteristic facies. It is associated with visible or submicroscopic deletions within chromosome band 17p13.3. Lissencephaly without facial dysmorphism has also been observed ...

Last Updated: 27 Aug 1997

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Reviews from the PubMed Database

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The terms "Lissencephaly 3" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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