Hydrolethalus syndrome

Common Name(s)

Hydrolethalus syndrome

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hydrolethalus syndrome" 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 "Hydrolethalus syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation.
 

Author(s): Alexander Dammermann, Hayley Pemble, Brian J Mitchell, Ian McLeod, John R Yates, Chris Kintner, Arshad B Desai, Karen Oegema

Journal: Genes Dev.. 2009 Sep;23(17):2046-59.

 

Centrioles are subcellular organelles composed of a ninefold symmetric microtubule array that perform two important functions: (1) They build centrosomes that organize the microtubule cytoskeleton, and (2) they template cilia, microtubule-based projections with sensory and motile ...

Last Updated: 2 Sep 2009

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Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.
 

Author(s): Lisa Mee, Heli Honkala, Outi Kopra, Jouni Vesa, Saara Finnilä, Ilona Visapää, Tzu-Kang Sang, George R Jackson, Riitta Salonen, Marjo Kestilä, Leena Peltonen

Journal: Hum. Mol. Genet.. 2005 Jun;14(11):1475-88.

 

Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome characterized by multiple developmental defects of fetus. We have earlier mapped and restricted the HLS region to a critical 1 cM interval on 11q23-25. The linkage disequilibrium (LD) and haplotype ...

Last Updated: 20 May 2005

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Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.
 

Author(s): I Visapää, R Salonen, T Varilo, P Paavola, L Peltonen

Journal: Am. J. Hum. Genet.. 1999 Oct;65(4):1086-95.

 

Hydrolethalus syndrome is a recessively inherited lethal malformation syndrome characterized by hydrocephaly with absent midline structures of the brain, micrognathia, polydactyly, and several other abnormalities, mostly in the midline structures. Hydrolethalus syndrome was described ...

Last Updated: 2 Oct 2000

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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 "Hydrolethalus syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.
 

Author(s): A Verloes, S Aymé, D Gambarelli, M Gonzales, M Le Merrer, N Mulliez, N Philip, J Roume

Journal: J. Med. Genet.. 1991 May;28(5):297-303.

 

A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism ...

Last Updated: 6 Sep 1991

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.