Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic <i>TAB2</i> variant in a 3‐generation family-Reference-Cited by-同舟云学术

Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family

Published:2022-08-24 Issue:12 Volume:188 Page:3510-3515
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:

Koene Saskia¹^ORCID,Klerx‐Melis Floortje²,Roest Arno Anne Willem³,Kleijwegt Maarten Cornelis⁴,Bootsma Marianne⁵,Haak Monique C.⁶,van Haeringen Meike Heleen¹,Ruivenkamp Claudia Antoinette Laetitia¹,Nibbeling Esther Anne Rieky¹,van Haeringen Arie¹

Affiliation:

1. Department of Clinical Genetics Leiden University Medical Centre Leiden The Netherlands

2. Department of Radiology Haga Teaching Hospital The Hague The Netherlands

3. Department of Pediatrics Leiden University Medical Centre Leiden The Netherlands

4. Department of Ear Nose and Throat ‐ Head and Neck Cancer Leiden University Medical Centre Leiden The Netherlands

5. Department of Cardiology Leiden University Medical Centre Leiden The Netherlands

6. Department of Prenatal Diagnosis and Therapy Leiden University Medical Centre Leiden The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62929

Reference12 articles.

1. Scapuloiliac dysostosis

2. Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs

3. First-principles calculation of atomic structure, stability and electronic structure of TaB2/SiC interface

4. TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

5. Sox9 transcriptionally regulates Wnt signaling in intestinal epithelial stem cells in hypomethylated crypts in the diabetic state