No abstract available
Publication types
-
Research Support, Non-U.S. Gov't
MeSH terms
-
3-Hydroxysteroid Dehydrogenases / genetics*
-
Adolescent
-
Amino Acid Sequence
-
DNA Mutational Analysis
-
Female
-
Humans
-
Ichthyosis / diagnosis
-
Ichthyosis / genetics*
-
Limb Deformities, Congenital / diagnosis
-
Limb Deformities, Congenital / genetics*
-
Molecular Sequence Data
-
Mutation*
-
Mutation, Missense
-
Nevus / diagnosis
-
Nevus / genetics*
-
Point Mutation
-
Polymorphism, Single Nucleotide
-
Sequence Alignment
-
Sequence Deletion
Substances
-
3-Hydroxysteroid Dehydrogenases
-
Nsdhl protein, human