𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The Coffin syndrome

✍ 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.

✦ 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.


πŸ“œ SIMILAR VOLUMES


Coffin–Lowry syndrome
✍ Marques Pereira, Patricia; Schneider, Anne; Pannetier, Solange; Heron, Delphine; πŸ“‚ Article πŸ“… 2009 πŸ› Nature Publishing Group 🌐 English βš– 555 KB
Coffin-Lowry syndrome
✍ Sanjeev R. Ahuja; Shubhangi Upadhye; Hemant V. Kulkarni; Madhuri V. Kulkarni πŸ“‚ Article πŸ“… 2003 πŸ› Springer-Verlag 🌐 English βš– 789 KB
Coffin Siris Syndrome
✍ Osamu Iwamoto; Chihiro Koga; Hajime Matsumoto; Shinichiro Terasaki; Jingo Kusuka πŸ“‚ Article πŸ“… 2003 πŸ› Scientific Communications 🌐 English βš– 232 KB
Coffin-Siris-Syndrom
✍ Krebs, P. ;Wieacker, P. πŸ“‚ Article πŸ“… 1998 πŸ› Springer 🌐 German βš– 113 KB
Autosomal dominant syndrome resembling C
✍ Maureen A. Flynn; Jeff M. Milunsky πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 165 KB πŸ‘ 2 views

## Abstract Coffin–Siris 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

Coffin-Lowry syndrome: Current status
✍ Jacquot, Sylvie; Merienne, Karine; Trivier, Elisabeth; Zeniou, Maria; Pannetier, πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 10 KB πŸ‘ 1 views