Weill-Marchesani Syndrome Latest Advances

Find the Latest Research About Weill-Marchesani Syndrome

Last Updated: 04/28/2026

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Found 196 publications

ADAMTS and ADAMTSL mutations in connective tissue disorders.

ADAMTS and ADAMTSL mutations in connective tissue disorders.

Journal: Physiology (Bethesda, Md.)
Published: March 31, 2026

A unique case of microspherophakia in adult Refsum disease.

A unique case of microspherophakia in adult Refsum disease.

Journal: American journal of ophthalmology case reports
Published: August 27, 2025

Longitudinal Association Between Psychotic-Like Experiences and New-Onset Mental Disorders in Late Adolescents.

Longitudinal Association Between Psychotic-Like Experiences and New-Onset Mental Disorders in Late Adolescents.

Journal: Journal of the American Academy of Child and Adolescent Psychiatry
Published: August 19, 2025

A novel homozygous ADAMTS10 frameshift variant in Weill-Marchesani syndrome in a Chinese family.

A novel homozygous ADAMTS10 frameshift variant in Weill-Marchesani syndrome in a Chinese family.

Journal: BMC medical genomics
Published: August 13, 2025

A novel compound heterozygous mutation in ADAMTS17 identified in a Chinese family with Weill-Marchesani syndrome.

A novel compound heterozygous mutation in ADAMTS17 identified in a Chinese family with Weill-Marchesani syndrome.

Journal: International journal of ophthalmology
Published: May 23, 2025

Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and compromises extracellular matrix formation.

Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and compromises extracellular matrix formation.

Journal: bioRxiv : the preprint server for biology
Published: February 03, 2025

Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes.

Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes.

Journal: Life science alliance
Published: January 22, 2025

Determination of the genome-scale metabolic network of Bartonella quintana str. Toulouse to optimize growth for its use as chassis for synthetic biology.

Determination of the genome-scale metabolic network of Bartonella quintana str. Toulouse to optimize growth for its use as chassis for synthetic biology.

Journal: Frontiers in bioengineering and biotechnology
Published: November 12, 2024

Secondary Angle Closure Glaucoma in Weill-Marchesani Syndrome.

Secondary Angle Closure Glaucoma in Weill-Marchesani Syndrome.

Journal: Diagnostics (Basel, Switzerland)
Published: August 18, 2024

Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case Report.

Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case Report.

Journal: Cureus
Published: August 04, 2024

Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.

Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.

Journal: Ophthalmic genetics
Published: July 24, 2024

Transscleral fixation of intraocular lens in the treatment of lens subluxation in children

Transscleral fixation of intraocular lens in the treatment of lens subluxation in children

Journal: Vestnik oftalmologii
Published: July 04, 2024
Showing 1-12 of 196

Last Updated: 04/28/2026