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De novo and inherited TCF20 pathogenic variants are associa..:
Francesco Vetrini
;
Shane McKee
;
Jill A. Rosenfeld
...
http://link.springer.com/article/10.1186/s13073-019-0623-0. , 2019
Link:
https://doi.org/10.1186/s13073-019-0623-0
RT Journal T1
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:d24638f2efce49c3b8ea400cc414438d&Exemplar=1&LAN=DE A1 Francesco Vetrini A1 Shane McKee A1 Jill A. Rosenfeld A1 Mohnish Suri A1 Andrea M. Lewis A1 Kimberly Margaret Nugent A1 Elizabeth Roeder A1 Rebecca O. Littlejohn A1 Sue Holder A1 Wenmiao Zhu A1 Joseph T. Alaimo A1 Brett Graham A1 Jill M. Harris A1 James B. Gibson A1 Matthew Pastore A1 Kim L. McBride A1 Makanko Komara A1 Lihadh Al-Gazali A1 Aisha Al Shamsi A1 Elizabeth A. Fanning A1 Klaas J. Wierenga A1 Daryl A. Scott A1 Ziva Ben-Neriah A1 Vardiella Meiner A1 Hanoch Cassuto A1 Orly Elpeleg A1 J. Lloyd Holder A1 Lindsay C. Burrage A1 Laurie H. Seaver A1 Lionel Van Maldergem A1 Sonal Mahida A1 Janet S. Soul A1 Margaret Marlatt A1 Ludmila Matyakhina A1 Julie Vogt A1 June-Anne Gold A1 Soo-Mi Park A1 Vinod Varghese A1 Anne K. Lampe A1 Ajith Kumar A1 Melissa Lees A1 Muriel Holder-Espinasse A1 Vivienne McConnell A1 Birgitta Bernhard A1 Ed Blair A1 Victoria Harrison A1 The DDD study A1 Donna M. Muzny A1 Richard A. Gibbs A1 Sarah H. Elsea A1 Jennifer E. Posey A1 Weimin Bi A1 Seema Lalani A1 Fan Xia A1 Yaping Yang A1 Christine M. Eng A1 James R. Lupski A1 Pengfei Liu PB BMC YR 2019 K1 TCF20 K1 22q13 K1 Neurodevelopmental disorders K1 Smith–Magenis syndrome K1 Haploinsufficiency K1 Loss-of-function variants K1 Medicine K1 R K1 Genetics K1 QH426-470 JF http://link.springer.com/article/10.1186/s13073-019-0623-0 LK http://dx.doi.org/https://doi.org/10.1186/s13073-019-0623-0 DO https://doi.org/10.1186/s13073-019-0623-0 SF ELIB - SuUB Bremen
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