Weill-Marchesani Syndrome Latest Advances

Bilateral Opposing Lens Dislocation and Retinal Detachment in LTBP2-Associated Weill-Marchesani Syndrome: Surgical Sequencing and Multidisciplinary Pediatric Management.

Journal: Retinal cases & brief reports

Published: May 26, 2026

ADAMTS and ADAMTSL mutations in connective tissue disorders.

Journal: Physiology (Bethesda, Md.)

Published: March 31, 2026

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

Journal: European journal of pediatrics

Published: March 27, 2026

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.

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.

Journal: BMC medical genomics

Published: August 13, 2025

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.

Journal: bioRxiv : the preprint server for biology

Published: February 03, 2025

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.

Journal: Frontiers in bioengineering and biotechnology

Published: November 12, 2024

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.

Journal: Cureus

Published: August 04, 2024

Weill-Marchesani Syndrome Latest Advances

Find the Latest Research About Weill-Marchesani Syndrome

Bilateral Opposing Lens Dislocation and Retinal Detachment in LTBP2-Associated Weill-Marchesani Syndrome: Surgical Sequencing and Multidisciplinary Pediatric Management.

Bilateral Opposing Lens Dislocation and Retinal Detachment in LTBP2-Associated Weill-Marchesani Syndrome: Surgical Sequencing and Multidisciplinary Pediatric Management.

ADAMTS and ADAMTSL mutations in connective tissue disorders.

ADAMTS and ADAMTSL mutations in connective tissue disorders.

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

A unique case of microspherophakia in adult Refsum disease.

A unique case of microspherophakia in adult Refsum disease.

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.

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.

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.

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.

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

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

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.

Secondary Angle Closure Glaucoma in Weill-Marchesani Syndrome.

Secondary Angle Closure Glaucoma in Weill-Marchesani Syndrome.

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.