All individuals with variants in gene HSD17B4

4 entries on 1 page. Showing entries 1 - 4.
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00000076 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00056385 - PubMed: Demain 2016, Journal: Demain 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) Brazilian - 0 - - PRLTS see paper; ... 2 1 Leigh Demain
00073126 - ATX107 - F - France - - 0 - - PRLTS - 2 1 Claire Guissart
00087080 - PubMed: Ahmed 2015, Journal: Ahmed 2015 5-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents F;M - Saudi Arabia - - 0 - - PRLTS see paper; profound hearing loss, brain atrophy, lower limb spasticity in early childhood, ... 2 3 Johan den Dunnen
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