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Last Updated: 10/31/2025
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Found 95 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
Foveal hypoplasia in Myhre syndrome: a novel association.
Journal: Ophthalmic genetics
Published: June 22, 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
Myhre syndrome: Endoscopic airway presentation.
Journal: International journal of pediatric otorhinolaryngology
Published: December 06, 2024
Thick skin and thicker arteries: case report on a rare cause of hypertension.
Journal: Pediatric nephrology (Berlin, Germany)
Published: December 04, 2024
Journaling for Parents and Adults With Myhre Syndrome: Using Reflective Writing to Help Cope.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: November 05, 2024
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Journal: European journal of human genetics : EJHG
Published: September 10, 2024
Middle Ear Fibrosis Contributes to Hearing Loss in Patients With Myhre Syndrome.
Journal: Ear, nose, & throat journal
Published: June 22, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.
Journal: American journal of human genetics
Published: June 07, 2024
Last Updated: 10/31/2025