Abstract |
|
Authors | Annette Kolb-Mäurer, Karl-Heinz Grzeschik, Dorothea Haas, Eva-Bettina Bröcker, Henning Hamm |
Journal | Acta dermato-venereologica
(Acta Derm Venereol)
Vol. 88
Issue 1
Pg. 47-51
( 2008)
ISSN: 0001-5555 [Print] Sweden |
PMID | 18176751
(Publication Type: Case Reports, Journal Article)
|
Chemical References |
- Cholestadienols
- cholesta-5,8-dien-3 beta-ol
- Cholesterol
- Steroid Isomerases
- EBP protein, human
- zymostenol
|
Topics |
- Alopecia
(genetics, pathology)
- Cataract
(genetics, pathology)
- Child, Preschool
- Cholestadienols
(blood)
- Cholesterol
(blood)
- Chondrodysplasia Punctata
(blood, genetics, pathology)
- Craniofacial Abnormalities
(genetics, pathology)
- DNA Mutational Analysis
- Eye
(pathology)
- Female
- Genes, Dominant
- Humans
- Hypopigmentation
(genetics, pathology)
- Mutation, Missense
- Skin
(pathology)
- Steroid Isomerases
(genetics)
|