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. 2014 Mar;22(3).
doi: 10.1038/ejhg.2013.140. Epub 2013 Jul 24.

Clinical utility gene card for: Alagille Syndrome (ALGS)

Laura D Leonard  1 , Grace Chao  1 , Alastair Baker  2 , Kathleen Loomes  3 , Nancy B Spinner  1
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Clinical utility gene card for: Alagille Syndrome (ALGS)

Laura D Leonard et al. Eur J Hum Genet. 2014 Mar.
No abstract available

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Figures

Figure 1
Figure 1
Prevalence of JAG1 mutations by mutation type (n=422 unrelated probands).
Figure 2
Figure 2
Prevalence of NOTCH2 mutations by mutation type (n=8 unrelated probands).,
See this image and copyright information in PMC

References

    1. Alagille D, Borde J, Habib EC, Thomassin N. Surgical attempts in atresia of the intrahepatic bile ducts with permeable extrahepatic bile duct. Study of 14 cases in children. Arch Fr Pediatr. 1969;26:51–71. - PubMed
    1. Riely CA, Cotlier E, Jensen PS, Klatskin G. Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement. Ann Intern Med. 1979;91:520–527. - PubMed
    1. Watson GH, Miller V. Arteriohepatic dysplasia: familial pulmonary arterial stenosis with neonatal liver disease. Arch Dis Child. 1973;48:459–466. - PMC - PubMed
    1. Alagille D, Estrada A, Hadchouel M, Gautier M, Odievre M, Dommergues JP. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J Pediatr. 1987;110:195–200. - PubMed
    1. Warthen DM, Moore EC, Kamath BM, et al. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Hum Mutat. 2006;27:436–443. - PubMed

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