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TCF20,22q13,Neurodevelopmental disorders,Smith–Magenis syndrome,Haploinsufficiency,Loss-of-function variants,Deletions
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10.1186/s13073-019-0623-0
Genome Medicine
Genome Medicine, 2019, doi:10.1186/s13073-019-0623-0
TCF20
22q13
Neurodevelopmental disorders
Smith–Magenis syndrome
Haploinsufficiency
Loss-of-function variants
Deletions
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
Francesco Vetrini
Shane McKee
Jill A. Rosenfeld
Mohnish Suri
Andrea M. Lewis
Kimberly Margaret Nugent
Elizabeth Roeder
Rebecca O. Littlejohn
Sue Holder
Wenmiao Zhu
Joseph T. Alaimo
Brett Graham
Jill M. Harris
James B. Gibson
Matthew Pastore
Kim L. McBride
Makanko Komara
Lihadh Al-Gazali
Aisha Shamsi
Elizabeth A. Fanning
Klaas J. Wierenga
Daryl A. Scott
Ziva Ben-Neriah
Vardiella Meiner
Hanoch Cassuto
Orly Elpeleg
J. Lloyd Holder
Lindsay C. Burrage
Laurie H. Seaver
Lionel Maldergem
Sonal Mahida
Janet S. Soul
Margaret Marlatt
Ludmila Matyakhina
Julie Vogt
June-Anne Gold
Soo-Mi Park
Vinod Varghese
Anne K. Lampe
Ajith Kumar
Melissa Lees
Muriel Holder-Espinasse
Vivienne McConnell
Birgitta Bernhard
Ed Blair
Victoria Harrison
Donna M. Muzny
Richard A. Gibbs
Sarah H. Elsea
Jennifer E. Posey
Weimin Bi
Seema Lalani
Fan Xia
Yaping Yang
Christine M. Eng
James R. Lupski
Pengfei Liu
2019-04-23T07:11:06+02:00
2019-03-18T14:44:47+08:00
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