A Neonate with Feathery Scales

J Pediatr. 2021 May:232:304-306. doi: 10.1016/j.jpeds.2021.01.049. Epub 2021 Jan 29.

Authors

Fateme Rajabi¹, Fahimeh Abdollahimajd²

Affiliations

¹ Skin Research Center, Shahid Beheshti University of Medical Sciences and Network of Dermatology Research, Universal Scientific Education and Research Network (USERN).
² Skin Research Center, Shahid Beheshti University of Medical Sciences and Clinical Research Development Unit, Shohada-e Tajrish Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

PMID: 33516679
DOI: 10.1016/j.jpeds.2021.01.049

No abstract available

Publication types

Case Reports

MeSH terms

Chondrodysplasia Punctata / diagnosis*
Chondrodysplasia Punctata / genetics
Chondrodysplasia Punctata / pathology
Female
Genetic Markers
Heterozygote
Humans
Infant, Newborn
Mutation
Skin / pathology*
Steroid Isomerases / genetics

Substances

Genetic Markers
Steroid Isomerases
EBP protein, human