All individuals with variants in gene RIT1

8 entries on 1 page. Showing entries 1 - 8.
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ID_report     

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Age at death     

VIP     

Data_av     

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Owner     
00043983 - PubMed: Joyce 2016 - M ? (United Kingdom (Great Britain)) - - - - - NS8 see paper; ... 1 1 Pia Ostergaard
00043984 - PubMed: Joyce 2016 - M ? (United Kingdom (Great Britain)) - - - - - NS8 see paper; ... 1 1 Pia Ostergaard
00080850 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - NS8 Noonan syndrome 8 (OMIM:615355) 1 1 Daniel Trujillano
00111413 S_011 PubMed: Popp 2017, Journal: Popp 2017 - M no - - - - - - NS8 Osteogenesis imperfecta due to a de novo mutation in COL1A1, heart defect, bronchopulmonal dysplasia, tracheostoma, severe ID, short stature, facial dysmorphism 1 1 Bernt Popp
00393308 189382 - prenatal exome analysis after ultrasound screening ? - Germany - - - - - NS8 Cystic hygroma, Fetal cystic hygroma, Edema, Hydrops fetalis, Polyhydramnios, Bilateral fetal pyelectasis, Choroid plexus cyst, Fetal choroid plexus cysts, Abnormality of ductus venosus blood flow, Abnormality of the fetal cardiovascular system 1 1 Andreas Laner
00412206 201305 - prenatal trio-exom after ultrasound abnormalities M no Germany - - - - - NS8 Hydrops fetalis, Increased nuchal translucency, Abnormality of ductus venosus blood flow 1 1 Andreas Laner
00419538 9030 PubMed: Marinakis 2021 - F - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00419539 9044 PubMed: Marinakis 2021 - F - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
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