All individuals with variants in gene ABCD3

2 entries on 1 page. Showing entries 1 - 2.
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00027178 - PubMed: Ferdinandusse 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - 04y 0 - - hepatosplenomegaly see paper; jaundice, hepatosplenomegaly, severe liver disease, striking accumulation of peroxisomal C27-bile acid intermediates in plasma; skin fibroblasts reduced number of enlarged import-competent peroxisomes; died 5 d after liver transplantation 1 1 Johan den Dunnen
00050695 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, generalized hypotonia, polyphagia, abnormal facial shape, astigmatism, constipation 1 1 Johan den Dunnen
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