Myhre Syndrome Latest Advances

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

Journal: Cureus

Published: January 29, 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

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

Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.

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

Published: June 29, 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

Myhre Syndrome Latest Advances

Find the Latest Research About Myhre Syndrome

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

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

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.

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.

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review.

Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review.

Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype Correlation.

Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype Correlation.

Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.

Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.

Foveal hypoplasia in Myhre syndrome: a novel association.

Foveal hypoplasia in Myhre syndrome: a novel association.

Navigating Drug Discovery for Myhre Syndrome: The Complexity of a Multisystemic Rare Disease.

Navigating Drug Discovery for Myhre Syndrome: The Complexity of a Multisystemic Rare Disease.