Congenital diaphragmatic hernia as a prominent feature of a SPECC1L ‐related syndrome-Reference-Cited by-同舟云学术

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L ‐related syndrome

Published:2020-09-21 Issue:12 Volume:182 Page:2919-2925
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Wild K. Taylor¹²^ORCID,Gordon Tia³⁴,Bhoj Elizabeth J.¹⁵^ORCID,Du Haowei³^ORCID,Jhangiani Shalini N.⁶,Posey Jennifer E.³^ORCID,Lupski James R.³⁶⁷⁸,Scott Daryl A.³⁸⁹^ORCID,Zackai Elaine H.¹

Affiliation:

1. Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Division of Neonatology The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

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

4. Kennesaw State University Kennesaw Georgia USA

5. Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

6. Human Genome Sequencing Center Baylor College of Medicine Houston Texas USA

7. Department of Pediatrics Baylor College of Medicine Houston Texas USA

8. Texas Children's Hospital Houston Texas USA

9. Department of Molecular Physiology and Biophysics Baylor College of Medicine Houston Texas USA

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61878

Reference24 articles.

1. Fog2 Is Required for Normal Diaphragm and Lung Development in Mice and Humans

2. Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

3. Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome

4. An integrative variant analysis suite for whole exome next-generation sequencing data

5. Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism

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1. Update on Management and Outcomes of Congenital Diaphragmatic Hernia;Journal of Intensive Care Medicine;2023-11-06

2. SPECC1L: a cytoskeletal protein that regulates embryonic tissue dynamics;Biochemical Society Transactions;2023-06-22

3. The First Insight into the Hereditary Fusion Gene Landscape of Amyotrophic Lateral Sclerosis;2023-03-17

4. Development of mortality prediction models for infants with isolated, left‐sided congenital diaphragmatic hernia before and after birth;Pediatric Pulmonology;2022-10-11

5. The Genomics of Congenital Diaphragmatic Hernia: A 10-Year Retrospective Review;J PEDIATR-US;2022