Literature DB >> 30909959

Correction to: 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 Vetrini1,2, Shane McKee3, Jill A Rosenfeld4, Mohnish Suri5, Andrea M Lewis4, Kimberly Margaret Nugent4,6, Elizabeth Roeder4,6, Rebecca O Littlejohn4,6, Sue Holder7, Wenmiao Zhu1, Joseph T Alaimo4, Brett Graham4,2, Jill M Harris8, James B Gibson8, Matthew Pastore9, Kim L McBride9, Makanko Komara10, Lihadh Al-Gazali10, Aisha Al Shamsi11, Elizabeth A Fanning12, Klaas J Wierenga12,13, Daryl A Scott4,14, Ziva Ben-Neriah15, Vardiella Meiner15, Hanoch Cassuto16, Orly Elpeleg17, J Lloyd Holder18, Lindsay C Burrage4, Laurie H Seaver19, Lionel Van Maldergem20, Sonal Mahida21, Janet S Soul21, Margaret Marlatt21, Ludmila Matyakhina22, Julie Vogt23, June-Anne Gold24, Soo-Mi Park24, Vinod Varghese25, Anne K Lampe26, Ajith Kumar27, Melissa Lees27, Muriel Holder-Espinasse28, Vivienne McConnell3, Birgitta Bernhard7, Ed Blair29, Victoria Harrison30, Donna M Muzny4,31, Richard A Gibbs4,31, Sarah H Elsea1,4, Jennifer E Posey4, Weimin Bi1,4, Seema Lalani1,4,18, Fan Xia1,4, Yaping Yang1,4, Christine M Eng1,4, James R Lupski1,4,31,18, Pengfei Liu32,33.   

Abstract

It was highlighted that the original article [1] contained a typographical error in the Results section. Subject 17 was incorrectly cited as Subject 1. This Correction article shows the revised statement. The original article has been updated.

Entities:  

Year:  2019        PMID： 30909959      PMCID： PMC6434874          DOI： 10.1186/s13073-019-0630-1

Source DB:  PubMed          Journal:  Genome Med        ISSN： 1756-994X            Impact factor:   11.117


Correction to: Genome Med (2019) 11:12 https://doi.org/10.1186/s13073-019-0623-0 It was highlighted that the original article [1] contained a typographical error in the Results section. Subject 17 was incorrectly cited as Subject 1. This Correction article shows the revised statement. The original article has been updated. Correct statement: “Of note, subject 17 of our cohort presented with mild delayed motor milestones, generalized hypotonia, and, in particular, dysmorphic features including midface hypoplasia, tented upper lips, along with sleep issues, ASD, food-seeking behavior, and aggressive behavior; these clinical features are similar to those reported in SMS.”
  1 in total

1.  De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Authors:  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 Al 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 Van 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
Journal:  Genome Med       Date:  2019-02-28       Impact factor: 11.117
  1 in total

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