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RNA-seq data of pig placenta and endometrium during late gestation.
Data Brief
December 2024
GenPhySE, Université de Toulouse, INRAE, INPT, ENVT, F31326 Castanet Tolosan, France.
Limiting the level of piglet losses before weaning is a growing demand from producers and society to improve the welfare and health of sows and piglets. In particular, perinatal mortality, which can be defined as the complete development allowing survival at birth, is mostly due to reduced piglet maturity that occurs at the end of gestation. Fetal growth and maturation depend on a fine balance between the nutrient requirements for optimal fetal growth and the maternal nutrient requirements.
View Article and Find Full Text PDFExpanded phenotypes and pathogenesis of geleophysic dysplasia 3 resulted from a de novo LTBP3 mutation: A case report.
Medicine (Baltimore)
December 2024
Xuzhou Clinical College of Xuzhou Medical University, Xuzhou Central Hospital, Xuzhou, China.
Rationale: The aim of this study is to investigate the de novo mutation and clinical features of latent transforming growth factor-beta-binding protein 3 (LTBP3) gene-associated geleophysic dysplasia 3, and possible mechanisms of action.
Patient Concerns: A nonconsanguineous couple was recruited for this study due to the presence of intrauterine growth restriction. The pregnant woman and her elder daughter presented with skeletal abnormalities with diabetes.
A Whole MED12 Gene Deletion in a Female Fetus With Features Encountered in Hardikar Syndrome.
Prenat Diagn
December 2024
Central Lab (Genetics Lab), Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China.
Article Synopsis
- Chromosomal analysis using CMA, MS-MLPA, and trio-WES was conducted on a female fetus with omphalocele, identifying a new 300-kb deletion in the Xq13.1 region affecting the MED12 gene.
- An ultrasound at 18 weeks showed features indicative of Hardikar syndrome, such as cleft lip and palate, diaphragmatic hernia, and heart displacement.
- The findings suggest that the deletion of the MED12 gene may play a critical role in the development of Hardikar syndrome, highlighting the potential impact of haploinsufficiency of this gene.
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