Acrodysostosis Latest Advances
Find the Latest Research About Acrodysostosis
Last Updated: 02/24/2026
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Found 350 publications
Genetic Heterogeneity Underlying Familial Short Stature.
Journal: Diagnostics (Basel, Switzerland)
Published: October 28, 2025
Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report.
Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
Published: October 18, 2025
Maternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion.
Journal: American journal of medical genetics. Part A
Published: July 27, 2025
Recurrent Acrodysostosis-Related PKA RIα Mutant Reveals a Novel Mechanism of Aberrant PKA Deactivation.
Journal: Journal of molecular biology
Published: June 11, 2025
Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.
Journal: The Journal of craniofacial surgery
Published: March 03, 2025
Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls.
Journal: Diagnostic pathology
Published: January 06, 2025
Brachydactylia in acrodysostosis.
Journal: QJM : monthly journal of the Association of Physicians
Published: November 12, 2024
Brachydactylia in acrodysostosis.
Journal: QJM : monthly journal of the Association of Physicians
Published: November 12, 2024
Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in BCOR gene.
Journal: Cardiology in the young
Published: October 11, 2024
Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: September 27, 2024
A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report.
Journal: Oxford medical case reports
Published: July 13, 2024
Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?
Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?
Journal: Brain communications
Published: March 08, 2024
Last Updated: 02/24/2026