Last Posted: Aug 19, 2023
- 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)
- Cancer in Costello syndrome: a systematic review and meta-analysis.
Astiazaran-Symonds Esteban, et al. British journal of cancer 2023 0
- 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
- Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
Lee Chung-Lin, et al. American journal of medical genetics. Part A 2019 0 (2) 357-364
- Comparison of hair manifestations in cardio-facio-cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth.
Urban J, et al. Journal of the European Academy of Dermatology and Venereology : JEADV 2019 0 (3) 601-607
- 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
- Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4-year follow-up study.
Leoni Chiara, et al. American journal of medical genetics. Part A 2021 0 (2) 422-430
- Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients.
Ríos-González Blanca E, et al. Clinical dysmorphology 2021 0 (2) 55-58
- Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.
Pelc Magdalena, et al. Clinical dysmorphology 2016 0 (2) 83-90
- Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.
Leoni Chiara, et al. Orphanet journal of rare diseases 2021 0 (1) 43
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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
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- Fragile X Syndrome
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics 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.