Associated Papers
Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study.
Lee Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS.
Liang R et al.
Bmc Pediatrics, 2025
A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.
Liu X et al.
Nephrology (carlton, Vic.), 2024
Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.
Wang Z et al.
Orphanet Journal of Rare Diseases, 2023
Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome.
Innoceta AM et al.
Genes, 2023
Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report.
Fang JX et al.
World Journal of Clinical Cases, 2022
Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.
Elmakky A et al.
Current Genomics, 2015
Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.
Vodopiutz J et al.
The Journal of Pediatrics, 2013
Screening newborns: current state and future challenges. Abstracts of the International Congress on Prevention of Congenital Diseases. Vienna, Austria. May 13-14, 2011.
Unknown Author
Journal of Inherited Metabolic Disease, 2011
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