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Results 1 - 9 of 9 for Pfeiffer syndrome type 1
  1. Pfeiffer syndrome 
    ... has symptoms as described above. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. ... gene cause a small percentage of cases of type 1 Pfeiffer syndrome. Mutations in this gene have not been associated ...
    https://medlineplus.gov/genetics/condition/pfeiffer-syndrome - Genetics
  2. Guide to Understanding Pfeiffer Syndrome (Children's Craniofacial Association) - PDF  
    Craniofacial Abnormalities/Specifics ... Craniofacial Abnormalities ... Children's Craniofacial Association ... PDF
    https://ccakids.org/.../uploads/2022/01/pfeiffer-guide_2018.pdf - External Health Links
  3. FGFR1 gene 
    ... K, Shotelersuk V. FGFR1 and FGFR2 mutations in Pfeiffer syndrome. J Craniofac Surg. 2013 Jan;24(1):150-2. doi: 10.1097/SCS.0b013e3182646454. Citation ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  4. FGFR2 gene 
    ... K, Shotelersuk V. FGFR1 and FGFR2 mutations in Pfeiffer syndrome. J Craniofac Surg. 2013 Jan;24(1):150-2. doi: 10.1097/SCS.0b013e3182646454. Citation ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  5. Shprintzen-Goldberg syndrome 
    ... J Med Genet A. 2006 Jan 1;140(1):104-8; author reply 109-10. doi: 10.1002/ajmg.a.31006. No ... syndrome: fourteen new patients and a clinical analysis. Am ...
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome - Genetics
  6. SCN5A gene 
    ... Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst ... testing. Heart Rhythm. 2010 Jan;7(1):33-46. doi: 10.1016/j.hrthm.2009. ...
    https://medlineplus.gov/genetics/gene/scn5a - Genetics
  7. Autism Spectrum Disorder (ASD) Screening: MedlinePlus Medical Test 
    ... Pediatrics. 2020 Jan [cited 2023 Jun 9];145(1):e20193447. doi: ... diagnosis of Asperger syndrome in adults. Dtsch Arztebl Int. 2013 Nov 8 [ ...
    https://medlineplus.gov/.../autism-spectrum-disorder-asd-screening - Medical Tests
  8. Craniosynostosis (Mayo Foundation for Medical Education and Research)  
    Craniofacial Abnormalities/Specifics ... Craniofacial Abnormalities ... Mayo Foundation for Medical Education and Research
    https://www.mayoclinic.org/.../symptoms-causes/syc-20354513?p=1 - External Health Links
  9. Anemia (Department of Health and Human Services, Office on Women's Health)  
    Anemia/Women ... Anemia ... Aplastic Anemia/Women ... Aplastic Anemia ... Department of Health and Human Services, Office on Women's Health
    https://www.womenshealth.gov/a-z-topics/iron-deficiency-anemia - External Health Links