A novel intronic <scp> <i>PORCN</i> </scp> variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia-Reference-Cited by-同舟云学术

A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia

Published:2022-01-10 Issue:5 Volume:188 Page:1612-1617
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:

Yamoto Kaori¹²,Okada Satoshi³^ORCID,Kato Fumiko⁴,Fujisawa Yasuko¹,Fukami Maki⁵^ORCID,Saitsu Hirotomo²,Ogata Tsutomu¹²⁶^ORCID

Affiliation:

1. Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan

2. Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan

3. Department of Pediatrics Hiroshima University Graduate School of Biomedical and Health Science Hiroshima Japan

4. Hamamatsu Child Health and Developmental Medicine Hamamatsu Japan

5. Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan

6. Department of Pediatrics Hamamatsu Medical Center Hamamatsu Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62649

Reference10 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen‐receptor gene correlates with X chromosome inactivation;Allen R. C.;American Journal of Human Genetics,1992

2. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals

3. Prediction of human mRNA donor and acceptor sites from the DNA sequence

4. ESEfinder: a web resource to identify exonic splicing enhancers

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