Abstract
First described in 1969 and 1975 [1, 2], Alagille syndrome (ALGS) is an autosomal dominant disorder with variable expression and reduced penetrance [11]. Alagille syndrome (ALGS) is characterised by the association of five main features: paucity of interlobular bile ducts, pulmonary artery stenosis, butterfly-like vertebrae, posterior embryotoxon and peculiar facies 1. Some patients have other associated features such as mental retardation, renal abnormalities and growth retardation.
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Puech, B., Mauget-Faysse, M., De Laey, JJ., Defoort-Dhellemmes, S., Zanlonghi, X. (2014). Alagille Syndrome. In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_52
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DOI: https://doi.org/10.1007/978-3-540-69466-3_52
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