TY  - GEN
AU  - Berthelot,J M
AU  - Maugars,Y
AU  - Robillard,N
AU  - Pascal,O
AU  - Stalder,J F
AU  - David,A
AU  - Prost,A
TI  - Autosomal dominant Muckle-Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four-generation family
SN  - 0148-7299
PY  - 1995///0126
KW  - Adolescent
KW  - Adult
KW  - Amyloidosis
KW  - genetics
KW  - Arthritis
KW  - Cystinuria
KW  - Female
KW  - Genes, Dominant
KW  - Genetic Diseases, Inborn
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Ichthyosis
KW  - Male
KW  - Middle Aged
KW  - Pedigree
KW  - Stomatitis, Aphthous
KW  - Syndrome
KW  - Urticaria
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.1320530115
ER  -