Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

European journal of medical genetics - 1 Oct 2022

Jones Gabriela, Johnson Katie, Eason Jacqueline, Hamilton Mark, Osio Deborah, Kanani Farah, Baptista Julia, Suri Mohnish

Abstract excerpt

Traboulsi syndrome, otherwise known as facial dysmorphism, lens dislocation, anterior-segment abnormalities and spontaneous filtering blebs, is an autosomal recessive condition associated with characteristic ocular features including dislocated crystalline lenses, anterior segment abnormalities and in some individuals, non-traumatic conjunctival cysts. There is a distinctive facial appearance which includes...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aspartic Acid
Share to Craniofacial Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ectopia Lentis

Share to Fibrillin-1

Share to Marfan Syndrome

Share to Mixed Function Oxygenases

Share to Muscle Proteins

Source

Identifiers

PMID: 35918038
DOI: 10.1016/j.ejmg.2022.104572

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.PMID 35918038Read ↗

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

A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome.Semantic proximity Read ↗

Marfan syndrome: an update of genetics, medical and surgical managementSemantic proximity Read ↗

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

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

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

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis Marfan syndromeSemantic proximity Read ↗

Clinical features in a family with an R460H mutation in transforming growth factor β receptor 2 geneSemantic proximity Read ↗

A patient with ascending aortic dilatation, similar to phenotypes of connective tissue disorders.Semantic proximity Read ↗

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.