We have studied 6 multigeneration Stickler syndrome families. Manifestations of the syndrome in the families included myopia, deafness, arthritis, characteristic facial changes with "flat" midface and cleft palate, although not all these were present in all families. COL2Al has been implicated as a
β¦ LIBER β¦
Clinical and genetic heterogeneity of Seckel syndrome
β Scribed by Faivre, L. ;Le Merrer, M. ;Lyonnet, S. ;Plauchu, H. ;Dagoneau, N. ;Campos-Xavier, A.B. ;Attia-Sobol, J. ;Verloes, A. ;Munnich, A. ;Cormier-Daire, V.
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 143 KB
- Volume
- 112
- Category
- Article
- ISSN
- 0148-7299
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