Beare-Stevenson Syndrome
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References
1: Wenger TL, Bhoj EJ, Wetmore RF, Mennuti MT, Bartlett SP, Mollen TJ, McDonald-McGinn DM, Zackai EH. Beare-Stevenson syndrome: Two new patients, including a novel finding of tracheal cartilaginous sleeve. Am J Med Genet A. 2015 Feb 23. doi: 10.1002/ajmg.a.36985. [Epub ahead of print] PubMed PMID: 25706251.
PubMedID: 25706251
Fonseca R, Costa-Lima MA, Cosentino V, Orioli IM. Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. Am J Med Genet A. 2008 Mar 1;146A(5):658-60.
PubMedID: 18247426
Hall BD, Cadle RG, Golabi M, Morris CA, Cohen MM Jr. Beare-Stevenson cutis gyrata syndrome. Am J Med Genet. 1992 Sep 1;44(1):82-9. PubMed PMID: 1519658.
PubMedID: 1519658