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References in periodicals archive ?
"Meckel-Gruber Syndrome with unilateral renal agenesis" J Coll Physicians Surg Pak.
Meckel-Gruber Syndrome (MKS) also known as Dysencephalia Splanchnicocystica, was first described by J.
As mentioned previously, syndromes such as JBTS, SLSN (Leber congenital amaurosis), and Meckel-Gruber syndrome are encoded by genes whose protein products colocalize with most nephronophthisis responsible genes.
Although Meckel-Gruber syndrome affects around one in 200,000 births, where both parents carry the defective gene there is a one in four chance of a baby being born with the condition.
Dr Colin Johnson, who led the research, said: "Identifying mutations in this gene that are responsible for Meckel-Gruber syndrome, should make screening for this devastating genetic condition far easier.
Syndromes which are associated with arthrogryposis are Pierre Robin, Moebius syndrome, Arnold-Chiari syndrome, Prune belly syndrome, Meckel-Gruber syndrome, Zellweger syndrome.
Meckel-gruber syndrome. Kathmandu Univ Med J 2006;4(3):334-336.
One foetus with encephalocele also had Polycystic kidneys, Polydactyly, Hypotelorism and narrow thorax as a part of Meckel-Gruber Syndrome. Renal System affection was the second most common.