Heterozygous variants in SPTBN1 cause intellectual disability and autism-Reference-Cited by-同舟云学术

Heterozygous variants in SPTBN1 cause intellectual disability and autism

Published:2021-04-13 Issue:7 Volume:185 Page:2037-2045
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Rosenfeld Jill A.¹^ORCID,Xiao Rui¹²,Bekheirnia Mir Reza¹³,Kanani Farah⁴,Parker Michael J.⁴,Koenig Mary K.⁵,Haeringen Arie⁶,Ruivenkamp Claudia⁶,Rosmaninho‐Salgado Joana⁷,Almeida Pedro M.⁷,Sá Joaquim⁷,Pinto Basto Jorge⁸,Palen Emily⁹,Oetjens Kathryn F.⁹,Burrage Lindsay C.¹¹⁰^ORCID,Xia Fan¹²,Liu Pengfei¹²^ORCID,Eng Christine M.¹²,Yang Yaping¹²,Posey Jennifer E.¹^ORCID,Lee Brendan H.¹¹⁰,

Affiliation:

1. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

2. Baylor Genetics Laboratories Houston Texas USA

3. Renal Section, Department of Pediatrics Baylor College of Medicine Houston Texas USA

4. Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust Sheffield UK

5. Department of Pediatrics University of Texas McGovern Medical School Houston Texas USA

6. Department of Clinical Genetics Leiden University Medical Center Leiden Netherlands

7. Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra Coimbra Portugal

8. Molecular Diagnostics and Clinical Genomics, CGC Genetics Porto Portugal

9. Autism & Developmental Medicine Institute, Geisinger Danville Pennsylvania USA

10. Texas Children's Hospital Houston Texas USA

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Wellcome

NIH Office of the Director

Office of Strategic Coordination

NIH

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62201

Reference44 articles.

1. Expanding the genetic heterogeneity of intellectual disability

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4. Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

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