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 8 free, full-text research articles on human participants. First 3 results:

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
 

Author(s): Caroline Alby, Kevin Piquand, Céline Huber, André Megarbané, Amale Ichkou, Marine Legendre, Fanny Pelluard, Ferechté Encha-Ravazi, Georges Abi-Tayeh, Bettina Bessières, Salima El Chehadeh-Djebbar, Nicole Laurent, Laurence Faivre, László Sztriha, Melinda Zombor, Hajnalka Szabó, Marion Failler, Meriem Garfa-Traore, Christine Bole, Patrick Nitschké, Mathilde Nizon, Nadia Elkhartoufi, Françoise Clerget-Darpoux, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans, Sophie Saunier, Valérie Cormier-Daire, Tania Attié-Bitach, Sophie Thomas

Journal: Am. J. Hum. Genet.. 2015 Aug;97(2):311-8.

 

KIAA0586, the human ortholog of chicken TALPID3, is a centrosomal protein that is essential for primary ciliogenesis. Its disruption in animal models causes defects attributed to abnormal hedgehog signaling; these defects include polydactyly and abnormal dorsoventral patterning of ...

Last Updated: 8 Aug 2015

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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: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis.
 

Author(s): Anders Paetau, Heli Honkala, Riitta Salonen, Jaakko Ignatius, Marjo Kestilä, Riitta Herva

Journal: J. Neuropathol. Exp. Neurol.. 2008 Aug;67(8):750-62.

 

Hydrolethalus syndrome is a lethal malformation syndrome with a severe brain malformation, most often hydrocephaly and absent midline structures. Other frequent findings are micrognathia, polydactyly, and defective lobation of the lungs. Hydrolethalus syndrome is inherited in an autosomal ...

Last Updated: 1 Aug 2008

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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

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