Last Posted: Feb 11, 2023
- Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome.
Çetinkaya Arda, et al. The Turkish journal of pediatrics 2018 0 (6) 619-624
- FGFR2 mutations among Thai children with Crouzon and Apert syndromes.
Shotelersuk Vorasuk, et al. The Journal of craniofacial surgery 2003 0 (1) 101-4; discussion 105-7
- Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis.
Alam Mohammad Khursheed et al. Scientific reports 2022 12(1) 5708
- Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation.
Kilcoyne Sarah, et al. The Journal of craniofacial surgery 2021 7
- Insights and future directions of potential genetic therapy for Apert syndrome: A systematic review.
Al-Namnam Nisreen Mohammed et al. Gene therapy 2021
- Apert syndrome: prenatal diagnosis challenge.
Vieira Catarina et al. BMJ case reports 2019 Dec 12(12)
- Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.
Drury Suzanne et al. Advances in experimental medicine and biology 2016 92471-75
- Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
Fernandes Marilyse B L, et al. American journal of medical genetics. Part A 2016 3
- Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis.
Pandey Rajeev Kumar, et al. Indian journal of human genetics 2014 4 (2) 155-9
- Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.
Ibarra-Arce A, et al. Genetics and molecular research : GMR 2015 0 (1) 2341-6
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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
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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.
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