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Last Updated: 01/07/2026
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Found 102 publications
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: July 18, 2025
Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: July 15, 2025
Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self-Reported Data.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: July 13, 2025
Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: July 03, 2025
Foveal hypoplasia in Myhre syndrome: a novel association.
Journal: Ophthalmic genetics
Published: June 22, 2025
Navigating Drug Discovery for Myhre Syndrome: The Complexity of a Multisystemic Rare Disease.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: May 22, 2025
A proposed nosology of inherited disorders of the extracellular matrix (ECM): Insights from the IEMbase and dyadic classification.
Journal: Molecular genetics and metabolism
Published: April 11, 2025
Cardio-Respiratory Complications in Adult Monozygotic Twins With Myhre Syndrome.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: March 17, 2025
Research Review of Myhre Syndrome.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: March 16, 2025
2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.
Journal: Neurobiology of disease
Published: January 25, 2025
Evaluation of the Mid and Lower Face in Three Females With Myhre Syndrome: Objective Methods to Supplement Subjective Assessment.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: December 12, 2024
Myhre syndrome: Endoscopic airway presentation.
Journal: International journal of pediatric otorhinolaryngology
Published: December 06, 2024
Last Updated: 01/07/2026