Autosomal dominant Muckle-Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four-generation family.

Berthelot, J M

Autosomal dominant Muckle-Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four-generation family. [electronic resource] - American journal of medical genetics Oct 1994 - 72-4 p. digital

Publication Type: Case Reports; Journal Article

0148-7299

10.1002/ajmg.1320530115 doi


Adolescent
Adult
Amyloidosis--genetics
Arthritis--genetics
Cystinuria--genetics
Female
Genes, Dominant
Genetic Diseases, Inborn--genetics
Hearing Loss, Sensorineural--genetics
Humans
Ichthyosis--genetics
Male
Middle Aged
Pedigree
Stomatitis, Aphthous--genetics
Syndrome
Urticaria--genetics