Childs Nerv Syst 2020 Jan 31
Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.
Etchegaray A, Juarez-Peñalva S, Petracchi F, Igarzabal L
Fetal ventriculomegaly (VM) is a frequent finding in prenatal ultrasound. Rather than a proper diagnosis, VM is a sonographic sign, making prenatal co ...
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Source: PubMed
Am. J. Med. Genet. A 2020 Jan 31
Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.
Lindsay F, Anderson I, Wentzensen IM, Suhrbier D, Stevens CA
Rhombencephalosynapsis (RES) is a rare congenital anomaly of the hindbrain characterized by fusion of the cerebellar hemispheres, cerebellar peduncles ...
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Source: PubMed
EMBO Mol Med 2020 Jan 31
Inhibiting MARSs reduces hyperhomocysteinemia-associated neural tube and congenital heart defects.
Mei X, Qi D, Zhang T, Zhao Y, Jin L, Hou J, Wang J, Lin Y, Xue Y, Zhu P, Liu Z, Huang L, Nie J, Si W, Ma J, Ye J, Finnell RH, Saiyin H, Wang H, Zhao J, Zhao S, Xu W
Hyperhomocysteinemia is a common metabolic disorder that imposes major adverse health consequences. Reducing homocysteine levels, however, is not alwa ...
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Source: PubMed
Medicine (Baltimore)
The prevalence of spinal muscular atrophy carrier in China: Evidences from epidemiological surveys.
Li C, Geng Y, Zhu X, Zhang L, Hong Z, Guo X, Xia C
Spinal muscular atrophy (SMA) was the second most fatal autosomal recessive hereditary disease in clinic. There had been no detailed study to characte ...
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Source: PubMed
PeerJ
Integrated bioinformatics analysis of potential pathway biomarkers using abnormal proteins in clubfoot.
Cai G, Yang X, Chen T, Jin F, Ding J, Wu Z
As one of the most common major congenital distal skeletal abnormalities, congenital talipes equinovarus (clubfoot) affects approximately one in one t ...
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Source: PubMed
