A novel, de novo intronic variant in <scp> <i>POGZ</i> </scp> causes <scp>White–Sutton</scp> syndrome-Reference-Cited by-同舟云学术

A novel, de novo intronic variant in POGZ causes White–Sutton syndrome

Published:2022-04-09 Issue:7 Volume:188 Page:2198-2203
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Merriweather Ashanta¹,Murdock David R.²,Rosenfeld Jill A.²,Dai Hongzheng²³,Ketkar Shamika²,Emrick Lisa²⁴⁵⁶,Nicholas Sarah⁵⁷,Lewis Richard A.²⁴⁸,Bacino Carlos A.²⁴,Scott Daryl A.²⁴⁹^ORCID,Lee Brendan²⁴,Sutton Vernon Reid²⁴,Potocki Lorraine²⁴,Burrage Lindsay C.²⁴^ORCID,

Affiliation:

1. Meharry Medical College Nashville Tennessee USA

2. Department of Molecular & Human Genetics Baylor College of Medicine Houston Texas USA

3. Baylor Genetics Houston Texas USA

4. Texas Children's Hospital Houston Texas USA

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

6. Division of Neurology and Developmental Neuroscience, Department of Pediatrics Baylor College of Medicine Houston Texas USA

7. Pediatric Immunology, Allergy, and Retrovirology Texas Children's Hospital Houston Texas USA

8. Cullen Eye Institute, Department of Ophthalmology Baylor College of Medicine Houston Texas USA

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

Funder

Burroughs Wellcome Fund

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62747

Reference26 articles.

1. Phenotypic expansion of POGZ ‐related intellectual disability syndrome (White‐Sutton syndrome)

2. PediTools Electronic Growth Chart Calculators: Applications in Clinical Care, Research, and Quality Improvement

3. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

4. A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants

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