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Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.
PMID: 1227559 [PubMed - indexed for MEDLINE]
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Cited by 3 PubMed Central articles
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Use of the term "Antley-Bixler syndrome": minimizing confusion.
Cragun D, Hopkin RJ.
Am J Hum Genet. 2005 Aug; 77(2):327-8; author reply 328-40.
[Am J Hum Genet. 2005]
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Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.
Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Flück CE, et al.
Am J Hum Genet. 2005 May; 76(5):729-49. Epub 2005 Mar 25.
[Am J Hum Genet. 2005]
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Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
Reardon W, Smith A, Honour JW, Hindmarsh P, Das D, Rumsby G, Nelson I, Malcolm S, Adès L, Sillence D, et al.
J Med Genet. 2000 Jan; 37(1):26-32.
[J Med Genet. 2000]