Pfeiffer Syndrome
What's New
Last Posted: Jan 31, 2023
- 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 - Mom Opens Up About Life with Daughter Who Has Rare Genetic Disorder: 'She's a Happy Girl'
C Adams, People, January 3, 2019 - Association between the FGFR1 rs13317 single nucleotide polymorphism and orbitale-nasion depth based on cephalometric images.
Adel Mohamed, et al. Journal of human genetics 2018 6 - 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 - 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 - Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
Roscioli T, et al. American journal of medical genetics. Part C, Seminars in medical genetics 2013 11 (4) 259-70 - Pfeiffer syndrome
From NCATS Genetic and Rare Diseases Information Center - Winkelman Bethge Pfeiffer syndrome
From NCATS Genetic and Rare Diseases Information Center - Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
Kan Shih-hsin, et al. American journal of human genetics 2002 2 (2) 472-86
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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
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- Glomerulonephritis
- Graves Disease
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- Huntington Disease
- Microcephaly
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- Phenylketonuria
- Retinitis Pigmentosa
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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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