All individuals with variants in gene TBX1

21 entries on 1 page. Showing entries 1 - 21.
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00050438 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - 0 Decipher - ? sparse scalp hair, fragile nails, abnormality of limb bone morphology, alopecia of scalp, high palate, global developmental delay, global developmental delay, abnormality of the heart 1 2 Johan den Dunnen
00050514 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? agenesis of corpus callosum, periventricular gray matter heterotopia, seizures, frontal bossing, eczema 1 1 Johan den Dunnen
00050542 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? abnormality of the nervous system, dysphagia, abnormality of the palpebral fissures, inverted nipples, redundant skin, global developmental delay 1 1 Johan den Dunnen
00050613 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? specific learning disability, congenital hypothyroidism, abnormality of metabolism/homeostasis, rhabdomyolysis, cardiomyopathy 1 1 Johan den Dunnen
00269470 - - - - - - - - 0 - - JBTS - 1 1 Jinu Han
00285597 - PubMed: Xu 2014, PubMed: Xu 2014 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00285598 - PubMed: Yagi 2003, PubMed: Zweier 2007 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00285599 - PubMed: Gong 2001 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00285600 - PubMed: Zweier 2007, PubMed: Fung 2015, PubMed: McDonald-McGinn 1993 - - - - - - 0 - - velocardiofacial syndrome - 1 1 Global Variome, with Curator vacancy
00285601 - PubMed: Gong 2001 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00285602 - PubMed: Gong 2001 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00285603 - PubMed: Rauch 2004 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00285604 - PubMed: Gong 2001 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00285605 - PubMed: Yagi 2003, PubMed: Stoller 2005 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00285606 - PubMed: Torres-Juan 2007 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00285607 - PubMed: Ogata 2014 - - - - - - 0 - - ? - 1 1 Global Variome, with Curator vacancy
00285608 - PubMed: Gong 2001 - - - - - - 0 - - DiGeorge syndrome - 1 1 Global Variome, with Curator vacancy
00285609 - PubMed: Gong 2001 - - - - - - 0 - - DiGeorge syndrome - 1 1 Global Variome, with Curator vacancy
00285610 - PubMed: Gong 2001 - - - - - - 0 - - velocardiofacial syndrome - 1 1 Global Variome, with Curator vacancy
00285611 - PubMed: Gong 2001 - - - - - - 0 - - DiGeorge syndrome velocardiofacial syndrome 1 1 Global Variome, with Curator vacancy
00308770 - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - 0 - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
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