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Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome

24 Apr 2014

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 24768550
DOI: 10.1016/j.ajhg.2014.04.002

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Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi SyndromePMID 24768550Read ↗

A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype-Phenotype Correlations.Semantic proximity Read ↗

Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentisSemantic proximity Read ↗

Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPHSemantic proximity Read ↗

A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.Semantic proximity Read ↗

Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort.Semantic proximity Read ↗

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.Semantic proximity Read ↗

Whole-exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family.Semantic proximity Read ↗

Genetics of aniridia and anterior segment dysgenesis.Semantic proximity Read ↗

Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM.Semantic proximity Read ↗

Current understanding of genetics and epigenetics in pseudoexfoliation syndrome and glaucomaSemantic proximity Read ↗

Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.Semantic proximity Read ↗

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.Semantic proximity Read ↗

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