All individuals with variants in gene TGFB3

25 entries on 1 page. Showing entries 1 - 25.
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00080864 - PubMed: Trujillano 2017 unaffected heterozygous carrier father, mother not available - - - - - - - - LDS5;RNHF Loeys-Dietz syndrome type 5 (OMIM:615582) 1 1 Daniel Trujillano
00209942 - PubMed: Pilichou 2006, Rampazzo 2008 (escardio.org ID24 4371) - - - - - - - - - ARVD/C ARVD/C, Task Force Criteria positive 1 11 Paul van der Zwaag
00209943 - PubMed: Basso, Rampazzo 2008 (escardio.org ID24 4371) Brother SCD, diagnosed on autospy - - - - - - - - ARVD/C ARVD/C, Task Force Criteria positive 1 2 Paul van der Zwaag
00209944 - - - - - - - - - - - ? ? 1 1 Paul van der Zwaag
00398115 Pat53 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398116 Pat54 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398182 Pat127 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398195 Pat140 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398196 Pat141 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398197 Pat142 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398198 Pat143 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398199 Pat144 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398200 Pat145 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00398201 Pat146 PubMed: Overwater 2018 - - - Netherlands - - - - - ? see paper; ... 1 1 Johan den Dunnen
00418573 PatXXX PubMed: Almpani 2022 proband - - United States - - - - - LDS see paper (extensive phenotyping) 1 1 Johan den Dunnen
00419652 8039 PubMed: Marinakis 2021 - F - Greece - - - - - ? sensorineural hearing loss, cardiomyopathy, pulmonary stenosis, sudden cardiac death 1 1 Jan Traeger-Synodinos
00444035 277694 - - M no ? (unknown) - - - - - LDS5;RNHF Macrocephaly, Tall stature, Pes planus, Delayed fine motor development, Expressive language delay, Cerebral white matter atrophy, Hypertelorism, Increased body weight 1 1 Andreas Laner
00446755 Pat23 PubMed: Miszalski-Jamka 2017 case not solved - - - - - - - - LVNC - 1 1 Johan den Dunnen
00446808 FamHPat93 PubMed: Miszalski-Jamka 2017 family, 2 affected; case solved - - - - - - - - LVNC - 1 2 Johan den Dunnen
00446809 Pat94 PubMed: Miszalski-Jamka 2017 case solved - - - - - - - - LVNC - 1 1 Johan den Dunnen
00446821 Pat110 PubMed: Miszalski-Jamka 2017 case not solved - - - - - - - - LVNC - 1 1 Johan den Dunnen
00446883 FamHPat176 PubMed: Miszalski-Jamka 2017 relative; case solved - - - - - - - - LVNC - 1 1 Johan den Dunnen
00446891 FamPatIII4 PubMed: Myasnikov 2021 4-generation family, 3 affected (2F, M) with di-genic variants F - Russia - - - - - LVNC see paper; ..., left ventricular non-compaction cardiomyopathy 1 3 Johan den Dunnen
00457354 Pat12 PubMed: Jia 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white;Poland - - - - NDD see paper; ..., birth 32w+6; prenatal IUGR, premature, anhydramnios after AROM with CAF; Infant feeding difficulties; failure to thrive; speech problems, 60 words in vocabulary; motor delay; speech regression; anxiety; trichotillomania; no macrocephaly; -(10th centile); MRI brain normal; EEG brain generalized high amplitude spikes, poly spike, slow wave discharges, bilateral OIRDA; convulsive seizure with flu; symptomatic generalized epilepsy, non-convulsive absence seizures; hyporeflexia; short stature; hypotonia; medial eyebrow flare, hypertelorism, wide nasal root, depressed nasal tip, high broad forehead; cutis marmorata 1 1 Johan den Dunnen
00460914 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
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