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Your search keyword '"Skin Diseases, Genetic diagnosis"' showing total 4 results
Start Over Descriptor "Skin Diseases, Genetic diagnosis" Language dutch; flemish
4 results on '"Skin Diseases, Genetic diagnosis"'

1. [Bullous congenital ichthyosiform erythroderma of Brocq; 2 patients with different phenotype and genotype].

Author

Lavrijsen AP, Bergman W, and Steijlen PM

Subjects
Adolescent, Child, Female, Genetic Linkage, Genotype, Humans, Hyperkeratosis, Epidermolytic drug therapy, Hyperkeratosis, Epidermolytic pathology, Hyperkeratosis, Epidermolytic physiopathology, Infant, Newborn, Keratin-10, Male, Phenotype, Skin pathology, Skin Diseases, Genetic diagnosis, Hyperkeratosis, Epidermolytic genetics, Keratins genetics, Mutation, Skin Diseases, Genetic genetics
Published
2001

2. [Fabry disease: data from 4 families].

Author

Ramselaar CG

Subjects
Angiokeratoma etiology, Angiokeratoma genetics, Diagnosis, Differential, Fabry Disease complications, Fabry Disease genetics, Humans, Skin Diseases, Genetic diagnosis, Angiokeratoma diagnosis, Fabry Disease diagnosis
Published
2001

3. [Boy with dermatosparaxis (Ehlers-Danlos type VIIC)].

Author

Pasch MC, Sillevis Smitt JH, Veenhuizen L, Kuiters GR, and van Essen AJ

Subjects
Abnormalities, Multiple diagnosis, Abnormalities, Multiple pathology, Diagnosis, Differential, Ehlers-Danlos Syndrome complications, Ehlers-Danlos Syndrome pathology, Genetic Predisposition to Disease, Humans, Infant, Male, Procollagen genetics, Skin Abnormalities genetics, Skin Diseases, Genetic pathology, Collagen genetics, Ehlers-Danlos Syndrome diagnosis, Skin Abnormalities pathology, Skin Diseases, Genetic diagnosis
Published
2000

4. [Newborn infant with congenital lamellar ichthyosis; 'collodion baby'].

Author

Njoo MD, Traupe H, Raghunath M, and Sillevis Smitt JH

Subjects
Consanguinity, DNA Mutational Analysis, Diagnosis, Differential, Humans, Ichthyosis, Lamellar enzymology, Ichthyosis, Lamellar genetics, Ichthyosis, Lamellar therapy, Infant, Newborn, Male, Skin Diseases, Genetic enzymology, Skin Diseases, Genetic pathology, Skin Diseases, Genetic therapy, Ichthyosis, Lamellar diagnosis, Mutation, Skin Diseases, Genetic diagnosis, Transglutaminases genetics
Published
2000

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