Costello 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) - 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 - Germline Cancer Predisposition Variants in?Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.
Li He, et al. Journal of the National Cancer Institute 2020 0 (7) 875-883 - Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Kobayashi Tomoko, et al. Human mutation 2010 0 (3) 284-94 - [Noonan syndrome: genetic and clinical update and treatment options].
Carcavilla Atilano et al. Anales de pediatria (Barcelona, Spain : 2003) 2020 May - Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features.
Kuehne Benjamin et al. Molecular and cellular probes 2019 Mar - Searching for a diagnosis: how scientists are untangling the mystery of developmental disorders
L Geddes, Mosaic, September 18, 2018 - Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.
Villani Anita et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(12) e83-e90 - Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.
Jhang Won Kyoung, et al. Pediatric cardiology 2016 8 - Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
Kratz C P, et al. British journal of cancer 2015 3 - Assessing genotype-phenotype correlation in Costello syndrome using a severity score.
McCormick Elizabeth M, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2013 7 (7) 554-7
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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
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