[HTML][HTML] KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report
B Buchignani, G Marinella, R Pasquariello, G Sgherri… - Genes, 2024 - mdpi.com
Background: Mutations in the KLHL40 gene are a common cause of severe or even lethal
nemaline myopathy. Some cases with mild forms have been described, although the cases …
nemaline myopathy. Some cases with mild forms have been described, although the cases …
Atypical fetal brain development in fetuses with non-syndromic isolated musculoskeletal birth defects (niMSBDs)
E Ahmad, O Brumfield, O Masse… - Cerebral …, 2023 - academic.oup.com
Non-syndromic, isolated musculoskeletal birth defects (niMSBDs) are among the leading
causes of pediatric hospitalization. However, little is known about brain development in …
causes of pediatric hospitalization. However, little is known about brain development in …
Fetal congenital talipes equinovarus: genomic abnormalities and obstetric follow-up results
M Cai, J Lin, Y Que, L Xu, N Lin… - The Journal of Maternal …, 2024 - Taylor & Francis
Objective The etiology of congenital talipes equinovarus (CTEV) is unknown, and the
relationship between chromosome microdeletion/microduplication and fetal CTEV is rarely …
relationship between chromosome microdeletion/microduplication and fetal CTEV is rarely …
Prenatal diagnosis of polycystic renal diseases: diagnostic yield, novel disease-causing variants, and genotype–phenotype correlations
R Huang, F Fu, F Guo, H Zhou, Q Yu, S Yan… - American Journal of …, 2024 - Elsevier
BACKGROUND Polycystic renal disease is a frequent congenital anomaly of the kidneys,
but research using chromosomal microarray analysis and exome sequencing in fetuses with …
but research using chromosomal microarray analysis and exome sequencing in fetuses with …