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A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.
Dai, Hongzheng; Zhu, Wenmiao; Yuan, Bo; Walley, Nicole; Schoch, Kelly; Jiang, Yong-Hui; Phillips, John A; Jones, Melissa S; Liu, Pengfei; Murdock, David R; Burrage, Lindsay C; Lee, Brendan; Rosenfeld, Jill A; Xiao, Rui.
Affiliation
  • Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Zhu W; Baylor Genetics, Houston, Texas, USA.
  • Yuan B; Baylor Genetics, Houston, Texas, USA.
  • Walley N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Schoch K; Baylor Genetics, Houston, Texas, USA.
  • Jiang YH; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Phillips JA; Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Jones MS; Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Liu P; Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Murdock DR; Department of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
  • Burrage LC; Houston Area Pediatric Neurology, Katy, Texas, USA.
  • Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Rosenfeld JA; Baylor Genetics, Houston, Texas, USA.
  • Xiao R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Hum Mutat ; 43(12): 1816-1823, 2022 12.
Article in En | MEDLINE | ID: mdl-36317458
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Serine-Threonine Kinases / Muscle Hypotonia / Muscular Diseases Type of study: Risk_factors_studies Limits: Humans / Infant Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States
Fulltext
Print
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PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Serine-Threonine Kinases / Muscle Hypotonia / Muscular Diseases Type of study: Risk_factors_studies Limits: Humans / Infant Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States