Myhre Syndrome Latest Advances

Myhre Syndrome: New Horizons in Clinical Care, Research and the Pursuit of Therapy.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 16, 2026

SMAD4-BPIFA1 Axis Governs Airway Antiviral Defense in Myhre Syndrome.

Journal: Biomolecules

Published: July 02, 2026

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

I Breathed.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: August 04, 2025

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

Myhre Syndrome Latest Advances

Find the Latest Research About Myhre Syndrome

Myhre Syndrome: New Horizons in Clinical Care, Research and the Pursuit of Therapy.

Myhre Syndrome: New Horizons in Clinical Care, Research and the Pursuit of Therapy.

SMAD4-BPIFA1 Axis Governs Airway Antiviral Defense in Myhre Syndrome.

SMAD4-BPIFA1 Axis Governs Airway Antiviral Defense in Myhre Syndrome.

Myhre Syndrome Presenting With Congenital Proximal Radioulnar Synostosis: A Case Report.

Myhre Syndrome Presenting With Congenital Proximal Radioulnar Synostosis: A Case Report.

Biliary Cirrhosis in Myhre Syndrome: The First Case Report of Liver Transplantation and a Review of Reported Hepatic Findings.

Biliary Cirrhosis in Myhre Syndrome: The First Case Report of Liver Transplantation and a Review of Reported Hepatic Findings.

I Breathed.

I Breathed.

A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia.

A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia.

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome.

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome.

Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric Surveillance.

Psychotic Features in Myhre Syndrome: Evidence for Broader Neuropsychiatric Surveillance.

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research.

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research.

Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology.

Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology.

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents.

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents.

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self-Reported Data.

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self-Reported Data.