Miller-Dieker syndrome

Common Name(s)

Miller-Dieker syndrome

Miller-Dieker syndrome is a genetic condition characterized by lissencephaly, typical facial features, and severe neurologic abnormalities.  Symptoms may include severe intellectual disability, developmental delay, seizures, muscle stiffness, weak muscle tone and feeding difficulties. Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. Treatment is symptomatic and supportive.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Miller-Dieker syndrome" for support, advocacy or research.

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

 

 

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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 "Miller-Dieker syndrome" returned 20 free, full-text research articles on human participants. First 3 results:

An Organoid-Based Model of Cortical Development Identifies Non-Cell-Autonomous Defects in Wnt Signaling Contributing to Miller-Dieker Syndrome.
 

Author(s): Vira Iefremova, George Manikakis, Olivia Krefft, Ammar Jabali, Kevin Weynans, Ruven Wilkens, Fabio Marsoner, Björn Brändl, Franz-Josef Müller, Philipp Koch, Julia Ladewig

Journal: Cell Rep. 2017 Apr;19(1):50-59.

 

Miller-Dieker syndrome (MDS) is caused by a heterozygous deletion of chromosome 17p13.3 involving the genes LIS1 and YWHAE (coding for 14.3.3ε) and leads to malformations during cortical development. Here, we used patient-specific forebrain-type organoids to investigate pathological ...

Last Updated: 31 Dec 1969

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[Deletion of the LIS1, ASPA, TRPV1 and CAMTA2 genes in region 17p13.3 in a patient with Miller-Dieker syndrome].
 

Author(s): S Laurito, E Goldschmidt, M Marquez, M Roque

Journal: Rev Neurol. 2011 Feb;52(3):189-91.

 

Last Updated: 31 Dec 1969

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Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3.
 

Author(s): Young Jin Kim, Shin Yun Byun, Seon A Jo, Yong Beom Shin, Eun Hae Cho, Eun Yup Lee, Sang-Hyun Hwang

Journal: Korean J Lab Med. 2011 Jan;31(1):49-53.

 

Miller-Dieker syndrome involves a severe type of lissencephaly, which is caused by defects in the lissencephaly gene (LIS1). We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by an unbalanced segregation of the parental balanced translocation of 17p ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Miller-Dieker syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Miller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse.
 

Author(s): Jessica Yingling, Kazuhito Toyo-Oka, Anthony Wynshaw-Boris

Journal: Am. J. Hum. Genet.. 2003 Sep;73(3):475-88.

 

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
 

Status: Recruiting

Condition Summary: Microdeletion Syndromes; Trisomy 21; Trisomy 18; Trisomy 13; Sex Chromosome Abnormalities

 

Last Updated: 21 Sep 2017

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