Natural history of Myhre syndrome

DD Yang, M Rio, C Michot, N Boddaert… - Orphanet Journal of …, 2022 - Springer
… Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre
syndrome. Otol Neurotol Off Publ Am Otol Soc Am Neurotol Soc Eur Acad Otol Neurotol. 2014;35:…

A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3–4

K Yang, X Wang, WQ Wang, MY Han… - Molecular Genetics …, 2023 - Wiley Online Library
… We identified 117 cases of Myhre syndrome, 77 (65.8%) of whom had clear molecular
confirmations that were related to the SMAD4 gene, while 40 cases did not have confirmation. The …

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)

…, MGH Myhre Syndrome Study Group… - American Journal of …, 2024 - Wiley Online Library
… The molecular basis of Myhre syndrome was reported as missense … The molecular mechanisms
underlying Myhre syndrome … with the recognition that Myhre syndrome shared the same …

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors

D Alankarage, A Enriquez, RD Steiner, C Raggio… - Differentiation, 2022 - Elsevier
… individuals with Myhre syndrome, and provide novel insights into the molecular mechanism
of … Our findings not only provide novel insights into the mechanism of Myhre syndrome

Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response

LJ Starr, ME Lindsay, D Perry… - Pediatric and …, 2022 - journals.sagepub.com
molecular confirmation is essential. This review creates a knowledge base of the pathology
of Myhre syndrome… -mortem studies in patients with Myhre syndrome. Further delineation of …

A case of Myhre syndrome mimicking juvenile scleroderma

B Jensen, R James, Y Hong, E Omoyinmi… - Pediatric …, 2020 - Springer
… with Myhre syndrome we describe in this report. ab Abnormal nailfold capillary patterns with
small microbleeds, very tortuous loops and mild dilatation in a patient with Myhre syndrome

The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity

H Li, B Cheng, X Hu, C Li, J Su, S Zhang, L Li, M Li… - Clinica Chimica …, 2020 - Elsevier
… reported SMAD4 pathogenic variants in Myhre syndrome patients using dual-… Myhre
syndrome cases and discussed the possible mechanism of SMAD4 variants in Myhre syndrome

Novel ocular and inner ear anomalies in a patient with Myhre syndrome

S Gürsoy, F Hazan, T Öztürk, H Ateş - Molecular Syndromology, 2020 - karger.com
Myhre syndrome is a rare autosomal dominant multisystemic disorder. Typical … this syndrome.
Herein, we present a 9.6-year-old Turkish girl with molecularly confirmed Myhre syndrome

… -talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome—the Myhre syndrome

R Kandhaya-Pillai, D Hou, J Zhang, X Yang… - GeroScience, 2021 - Springer
… ,” or multiple features of aging, defined as “segmental progeroid syndromes” (1). We propose
that Myhre syndrome (MS) is an example of the latter. It is a rare genetic syndrome with a …

Human SMAD4 Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease

SA Bhave, D Guo, SN Angelov, MJ Bamshad… - Cardiogenetics, 2021 - mdpi.com
Myhre syndrome [26]. Vascular malformations are a common factor amongst HHT, Myhre
syndrome… thoracic aortic disease, HHT, and Myhre syndrome. Additional research is needed to …