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Comment
. 2005 Aug;77(2):327-8; author reply 328-40.
doi: 10.1086/432164.

Use of the term "Antley-Bixler syndrome": minimizing confusion

Deborah Cragun, Robert J Hopkin
Comment

Use of the term "Antley-Bixler syndrome": minimizing confusion

Deborah Cragun et al. Am J Hum Genet. 2005 Aug.
No abstract available

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References

Web Resource

    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for POR and ABS) - PubMed

References

    1. Antley R, Bixler D (1975) Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig Artic Ser 11:397–401 - PubMed
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    1. Cragun DL, Trumpy SK, Shackleton CH, Kelley RI, Leslie ND, Mulrooney NP, Hopkin RJ (2004) Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. Am J Med Genet A 129:1–710.1002/ajmg.a.30170 - DOI - PubMed
    1. Flück CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonca BB, Fujieda K, Miller WL (2004) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet 36:228–23010.1038/ng1300 - DOI - PubMed
    1. Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, Okuya T, Nakai H, Soneda S, Tachibana K, Matsuo N, Sato S, Hom K, Nishimura G, Hasegawa T, Ogata T (2004) Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab 90:414–42610.1210/jc.2004-0810 - DOI - PubMed

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