Myhre Syndrome Latest Advances
Find the Latest Research About Myhre Syndrome
Last Updated: 06/30/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 112 publications
Myhre Syndrome Presenting With Congenital Proximal Radioulnar Synostosis: A Case Report.
Journal: Cureus
Published: January 29, 2026
Biliary Cirrhosis in Myhre Syndrome: The First Case Report of Liver Transplantation and a Review of Reported Hepatic Findings.
Journal: American journal of medical genetics. Part A
Published: January 02, 2026
A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia.
Journal: American journal of medical genetics. Part A
Published: July 29, 2025
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
Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric Surveillance.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: July 16, 2025
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: July 15, 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
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: July 14, 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
Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: July 11, 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
Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype Correlation.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: June 30, 2025
Last Updated: 06/30/2026