Distal Arthrogryposis Type 6 Latest Advances
Find the Latest Research About Distal Arthrogryposis Type 6
Last Updated: 09/19/2026
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Found 178 publications
Re: Diodato et al. "Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review" (European Journal of Paediatric Neurology 61, 2026, 24-35).
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: May 19, 2026
SYNE1-Related motor neuron disease-like phenotype with mild distal contractures and 24-month clinical stability: a case report.
Journal: BMC neurology
Published: April 10, 2026
Femoral anterior distal hemiepiphysiodesis for correction of knee flexion contractures in arthrogryposis.
Journal: Journal of pediatric orthopedics. Part B
Published: March 31, 2026
Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.
Journal: Brain : a journal of neurology
Published: February 10, 2026
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
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
Novel Homozygous PIEZO2 Splice Site Mutation Causing Distal Arthrogryposis with Impaired Proprioception.
Journal: Indian journal of pediatrics
Published: September 06, 2025
Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: July 04, 2025
Clinical and genetic analysis of a pedigree affected with Distal arthrogryposis type 5D due to compound heterozygous variants of ECEL1 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: May 15, 2025
ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy.
Journal: Neuromuscular disorders : NMD
Published: April 10, 2025
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).
Journal: Molecular genetics & genomic medicine
Published: March 17, 2025
The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy.
Journal: Human mutation
Published: November 21, 2024
Last Updated: 09/19/2026