Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference19 articles.
1. A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome;Abarca Barriga;Am. J. Med. Genet. A,2018
2. A novel 5 bp homozygous deletion mutation in ASPH gene associates with Traboulsi syndrome;Chandran;Ophthalmic Genet.,2019
3. Absence of post-translational aspartyl beta-hydroxylation of epidermal growth factor domains in mice leads to developmental defects and an increased incidence of intestinal neoplasia;Dinchuk;J. Biol. Chem.,2002
4. The deciphering developmental disorders (DDD) study;Firth;Dev. Med. Child Neurol.,2011
5. Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance;Haddad;Am. J. Med. Genet.,2001
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1. Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort;Gene;2024-10
2. A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype–Phenotype Correlations;Genes;2024-08-25
3. Iso-Seq enables discovery of novel isoform variants in human retina at single cell resolution;2024-08-09
4. Biological encirclage–Traboulsi syndrome;Indian Journal of Ophthalmology;2024-06-22
5. Traboulsi syndrome: A case report;Asian Journal of Surgery;2024-04
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