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Latest Publications and Research on Birth Defect - Genetic

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 ... Read More

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 ... Read More

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 ... Read More

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 ... Read More

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 ... Read More

Source: PubMed

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