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Last Updated: 02/24/2026

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Found 2682 publications

Arthrogryposis as a neuromuscular phenotype: lessons from PIEZO2 loss-of-function.

Arthrogryposis as a neuromuscular phenotype: lessons from PIEZO2 loss-of-function.

Journal: Practical neurology
Published: December 06, 2025

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Journal: Clinical genetics
Published: December 03, 2025

Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.

Expanding the Genotype-Phenotype Correlation of Marden-Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil.

Journal: American journal of medical genetics. Part A
Published: December 01, 2025

Fracture Risk Following Hardware Removal in Children With Arthrogryposis.

Fracture Risk Following Hardware Removal in Children With Arthrogryposis.

Journal: Journal of pediatric orthopedics
Published: November 05, 2025

Psychometric properties of functional mobility outcome measures in children with arthrogryposis multiplex congenita.

Psychometric properties of functional mobility outcome measures in children with arthrogryposis multiplex congenita.

Journal: Developmental medicine and child neurology
Published: November 04, 2025

Impact of growth hormone treatment on a 12-year-old female with newly diagnosed panhypopituitarism and distal arthrogryposis.

Impact of growth hormone treatment on a 12-year-old female with newly diagnosed panhypopituitarism and distal arthrogryposis.

Journal: Endocrinology, diabetes & metabolism case reports
Published: November 02, 2025

From Caudal Regression to Wieacker-Wolff Syndrome: The Decisive Role of Postmortem Examination and Exome Sequencing in Revising a Prenatal Diagnosis.

From Caudal Regression to Wieacker-Wolff Syndrome: The Decisive Role of Postmortem Examination and Exome Sequencing in Revising a Prenatal Diagnosis.

Journal: Cureus
Published: October 28, 2025

Non-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review.

Non-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review.

Journal: Journal of child neurology
Published: October 15, 2025

PMP22-Related Neuropathies: A Systematic Review.

PMP22-Related Neuropathies: A Systematic Review.

Journal: Genes
Published: September 29, 2025

Expert consensus on the clinical diagnosis and management of Arthrogryposis multiplex congenita (2025 Edition)

Expert consensus on the clinical diagnosis and management of Arthrogryposis multiplex congenita (2025 Edition)

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 14, 2025

Pierre Robin Sequence Associated with Arthrogryposis Multiplex Congenita.

Pierre Robin Sequence Associated with Arthrogryposis Multiplex Congenita.

Journal: Indian journal of pediatrics
Published: September 10, 2025

Novel Homozygous PIEZO2 Splice Site Mutation Causing Distal Arthrogryposis with Impaired Proprioception.

Novel Homozygous PIEZO2 Splice Site Mutation Causing Distal Arthrogryposis with Impaired Proprioception.

Journal: Indian journal of pediatrics
Published: September 06, 2025
Showing 1-12 of 2,682

Last Updated: 02/24/2026