A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation.
Publication
, Journal Article
Ko, L; Griggs, CL; Mylonas, KS; Masiakos, PT; Kroshinsky, D
Published in: J Pediatr
February 2018
We report a case of nonfatal junctional epidermolysis bullosa and pyloric atresia in a newborn. We identified a substitution (c.914C>T) for the integrin β4 gene that has been associated with favorable outcome. A novel mutation (c.2011T>G) of unknown significance was also found in this patient who is now thriving.
Duke Scholars
Published In
J Pediatr
DOI
EISSN
1097-6833
Publication Date
February 2018
Volume
193
Start / End Page
261 / 264.e1
Location
United States
Related Subject Headings
- Skin
- Pylorus
- Plastic Surgery Procedures
- Pediatrics
- Mutation
- Laparotomy
- Integrin beta4
- Infant, Newborn
- Humans
- Heterozygote
Citation
APA
Chicago
ICMJE
MLA
NLM
Ko, L., Griggs, C. L., Mylonas, K. S., Masiakos, P. T., & Kroshinsky, D. (2018). A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation. J Pediatr, 193, 261-264.e1. https://doi.org/10.1016/j.jpeds.2017.09.023
Ko, Lauren, Cornelia L. Griggs, Konstantinos S. Mylonas, Peter T. Masiakos, and Daniela Kroshinsky. “A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation.” J Pediatr 193 (February 2018): 261-264.e1. https://doi.org/10.1016/j.jpeds.2017.09.023.
Ko L, Griggs CL, Mylonas KS, Masiakos PT, Kroshinsky D. A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation. J Pediatr. 2018 Feb;193:261-264.e1.
Ko, Lauren, et al. “A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation.” J Pediatr, vol. 193, Feb. 2018, pp. 261-264.e1. Pubmed, doi:10.1016/j.jpeds.2017.09.023.
Ko L, Griggs CL, Mylonas KS, Masiakos PT, Kroshinsky D. A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation. J Pediatr. 2018 Feb;193:261-264.e1.
Published In
J Pediatr
DOI
EISSN
1097-6833
Publication Date
February 2018
Volume
193
Start / End Page
261 / 264.e1
Location
United States
Related Subject Headings
- Skin
- Pylorus
- Plastic Surgery Procedures
- Pediatrics
- Mutation
- Laparotomy
- Integrin beta4
- Infant, Newborn
- Humans
- Heterozygote