Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2013 1
2020 2
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

3 results

Results by year

Filters applied: . Clear all
Page 1
A pilot clinical trial with losartan in Myhre syndrome.
Cappuccio G, Caiazza M, Roca A, Melis D, Iuliano A, Matyas G, Rubino M, Limongelli G, Brunetti-Pierri N. Cappuccio G, et al. Am J Med Genet A. 2021 Mar;185(3):702-709. doi: 10.1002/ajmg.a.62019. Epub 2020 Dec 24. Am J Med Genet A. 2021. PMID: 33369056 Free PMC article. Clinical Trial.
INTRODUCTION: Myhre syndrome (MS) is an ultra-rare disorder due to pathogenic variants in the SMAD4 gene that encodes a protein regulating the TGF-beta pathway and extra-cellular matrix (ECM) homeostasis. Main clinical features of MS include thickening of ski …
INTRODUCTION: Myhre syndrome (MS) is an ultra-rare disorder due to pathogenic variants in the SMAD4 gene that encodes a protei …
Recurrent pericarditis in Myhre syndrome.
Picco P, Naselli A, Pala G, Marsciani A, Buoncompagni A, Martini A. Picco P, et al. Am J Med Genet A. 2013 May;161A(5):1164-6. doi: 10.1002/ajmg.a.35892. Am J Med Genet A. 2013. PMID: 23610053
Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobili …
Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, facial dysmorphism (short …
Life-Threatening Multilevel Airway Stenosis Due to Myhre Syndrome.
Alape D, Singh R, Folch E, Fernandez Bussy S, Agnew A, Majid A. Alape D, et al. Am J Respir Crit Care Med. 2020 Mar 15;201(6):731-732. doi: 10.1164/rccm.201905-0922IM. Am J Respir Crit Care Med. 2020. PMID: 31539271 No abstract available.