Pfeiffer syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/1750-1172-1-19.pdf
Reference10 articles.
1. Pfeiffer RA: Dominant hereditary acrocephalosyndactylia. Z Kinderheilkd. 1964, 90: 301-320. 10.1007/BF00447500.
2. Cohen MM: Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet. 1993, 45: 300-307. 10.1002/ajmg.1320450305.
3. Hockstein NG, McDonald-McGinn D, Zackai E, Bartlett S, Huff DS, Jacobs I: Tracheal anomalies in Pfeiffer syndrome. Arch Otolaryngol Head Neck Surg. 2004, 130: 1298-1302. 10.1001/archotol.130.11.1298.
4. Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H, et al: Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet. 1995, 4: 323-328.
5. Wilkie AO, Oldridge M, Tang Z, Maxson RE: Craniosynostosis and related limb anomalies. Novartis Found Symp. 2001, 232: 122-133.
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