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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949827/
Meckel-Gruber syndrome is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other conditions. Antenatal ultrasound examination ...Cited by: 5
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701918/
Nov 20, 2017 · Meckel–Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by mutations in genes encoding proteins that are structural or functional components of the primary cilium. Conditions that are caused by mutations in ciliary genes are collectively termed the ...Cited by: 15
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3271618/
Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia, cysts, and polydactyly.
https://www.verywellhealth.com/meckel-gruber-syndrome-2860387
Meckel-Gruber syndrome, also known as dysencephalia splanchnocystica, Meckel syndrome, and Gruber syndrome, is a genetic disorder that causes a variety of severe physical defects. Because of these severe defects, those with Meckel syndrome typically die before or shortly after birth.
https://www.sciencedirect.com/topics/medicine-and-dentistry/meckel-syndrome
Mar 03, 2011 · Meckel–Gruber Syndrome. Meckel–Gruber syndrome is an autosomal recessive disorder associated with mutations in any of at least 11 genes, all of which are associated with proper functioning of the primary cilia. It occurs in 2.6 per 100,000 live births and is more common if there is parental consanguinity.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3783728/
Meckel-Gruber syndrome (MGS) is a triad of occipital encephalocele, large polycystic kidneys, and postaxial polydactyly. It is a rare, lethal autosomal recessive condition mapped to 6 different loci in different chromosomes. Meckel-Gruber syndrome is a condition characterized by ciliopathies caused by dysfunction of cilia and flagella.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3809165/
Meckel-Gruber Syndrome (MKS) also known as Dysencephalia Splanchnicocystica, was first described by J. R. Meckel in 1822. It is an autosomal recessive genetic disease and occurs in all races and ethnicities. The highest incidence is reported in Finnish population of 1 in 9000. 1 To date, up to 200 cases of MKS have been reported in the ...
https://rarediseases.info.nih.gov/diseases/3436/meckel-syndrome
93 rows · May 30, 2012 · Meckel syndrome is a very severe disorder that is characterized by multiple …
https://ghr.nlm.nih.gov/condition/meckel-syndrome
Oct 15, 2019 · Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia. Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.
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