The Coffin syndrome
β Scribed by J. P. Fryns; L. Vinken; H. Berghe
- Book ID
- 104777543
- Publisher
- Springer
- Year
- 1977
- Tongue
- English
- Weight
- 353 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
β¦ Synopsis
Two brothers with Coffin syndrome are presented and the fifteen other cases available in the literature are reviewed. The molecular defect causing this clinically recognizable syndrome is unknown, and the mode of inheritance may be a sex-linked recessive, but a sex-limited autosomal dominant or autosomal dominant with variable degree of expression cannot be fully excluded at the present time.
π SIMILAR VOLUMES
## Abstract CoffinβSiris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Al