Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0728731 (
prematurity
)
7,134
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Bullous dermolysis of the newborn is a dominant or recessive inherited subtype of dystrophic epidermolysis bullosa characterized by the tendency to spontaneously stop blistering within the first months of life. Here we report two siblings with bullous dermolysis of the newborn who were born prematurely and have a novel recessive mutation, p.Pro2259Leu, in the triple helix domain of
type VII collagen
. We discuss the possible relationship between genotype and
prematurity
and clinical manifestations in these patients.
...
PMID:Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen. 2563 40
