Search

Your search keyword '"H.Grzeschis, K."' showing total 1 results
Start Over Author "H.Grzeschis, K."
1 results on '"H.Grzeschis, K."'

1. Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis).

Author

Feldmeyer, L., Mevorah, B., H.Grzeschis, K., Huber, M., and Hohl, D.

Subjects
DYSPLASIA, GENETIC mutation, NEONATAL infections, INFECTION in children, KERATOSIS
Abstract

The article discusses the molecular and clinical correlation of three cases of chondrodysplasia punctata, including a new mutation. A baby girl was born with a thickened and diffusely red integument with greyish scales that had patterned arrangement following the lines of Blaschko. A neonatal examination revealed erythematous and ichthyosiform lesions with follicular keratosis following the lines of Blaschko. Biochemical analysis revealed normal values for all peroxicomal parameters.

Published
2006
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results