All individuals with variants in gene SLC25A26

3 entries on 1 page. Showing entries 1 - 3.
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00065271 26522469-Fam1PatII2 PubMed: Kishita Y 2016, Journal: Kishita Y 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Iraq - >06y03m - - - ? pulmonary hypertension (HP:0002092), lactic acidosis (HP:0003128), slight interstitial oedema (HP:0000969), pulmonary hypertension (HP:0002092), enlarged right ventricle (HP:0001707), prominent lung artery (HP:0004414), reduced ATP production, slight global developmental delay (HP:0001263) 1 1 Pieter Klap
00081808 - PubMed: Kishita Y 2016, Journal: Kishita Y 2016 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - ? see paper; ... 2 1 Johan den Dunnen
00081809 - PubMed: Kishita Y 2016, Journal: Kishita Y 2016 2-generation family, 1 affected, unaffected non-carrier parents F yes Morocco - - - - - ? see paper; ... 1 1 Johan den Dunnen
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