Last Posted: Mar 09, 2023
- FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.
Lin Ying, et al. Molecular medicine reports 2017 0 (5) 5841-5846
- A Pilot Study of Identification Genetic Background of Craniosynostosis Cases.
Atli Emine Ikbal, et al. The Journal of craniofacial surgery 2020 0 (3) 1059-1062
- Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
Lajeunie Elisabeth, et al. European journal of human genetics : EJHG 2006 0 (3) 289-98
- 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
- Crouzon syndrome: Genetic and intervention review.
Al-Namnam N M et al. Journal of oral biology and craniofacial research 9(1) 37-39
- 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
- Skull base morphology in fibroblast growth factor receptor type 2-related faciocraniosynostosis: a descriptive analysis.
Coll Guillaume, et al. Neurosurgery 2015 5 (5) 571-83; discussion 583
- Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.
Wenger Tara L, et al. American journal of medical genetics. Part A 2015 4 (4) 852-7
- Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Nur Banu G, et al. Pediatric neurology 2014 5 (5) 482-90
- Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.
Pandey Rajeev Kumar, et al. Indian journal of human genetics 2013 10 (4) 449-53
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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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