Hydrolethalus syndrome
Common Name(s)
Hydrolethalus syndrome
Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Hydrolethalus syndrome" for support, advocacy or research.
How do you compare to others with this condition?
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Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Hydrolethalus syndrome" for support, advocacy or research.
Recommended Apps
Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.
Finding the right clinical trial for Hydrolethalus syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
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:
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 ...
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 ...
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 ...
To view other free, full-text articles on human participants, please click on the link below.
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:
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 ...
To view other free, full-text review articles on human participants, please click on the link below.
Symptoms, Diagnosis, and Treatment
https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome
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https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome
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https://ghr.nlm.nih.gov/condition/horner-syndrome
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There are currently no related results available in GeneReviews.
Clinical Trial Information This information is provided by ClinicalTrials.gov
There are currently no open clinical trials for this condition.
Finding the right clinical trial for Hydrolethalus syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.