Cardiofaciocutaneous Syndrome
What's New
Last Posted: Jan 20, 2024
- Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.
Olga Boleti, et al. ESC heart failure 2024 0 - Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Atilano Carcavilla, et al. Journal of clinical medicine 2023 0 (15) - Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Umeki Ikumi, et al. Human genetics 2018 0 (1) 21-35 - Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
Chinton Josefina, et al. Archivos argentinos de pediatria 2019 0 (5) 330-337 - Mutation and Phenotypic Spectrum of Patients With RASopathies.
Lallar Meenakshi, et al. Indian pediatrics 2020 0 - [Noonan syndrome: genetic and clinical update and treatment options].
Carcavilla Atilano et al. Anales de pediatria (Barcelona, Spain : 2003) 2020 May - The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.
Joyce Sarah, et al. European journal of human genetics : EJHG 2015 8 - Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
Lee Beom Hee, et al. The Journal of pediatrics 2011 12 (6) 1029-35 - Cardiofaciocutaneous syndrome
From NCATS Genetic and Rare Diseases Information Center - Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
Pierpont Elizabeth I, et al. American journal of medical genetics. Part A 2010 3 (3) 591-600
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Content source: