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Costello syndrome: Update on the original cases and commentary

✍ Scribed by Costello, J. M.


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
345 KB
Volume
62
Category
Article
ISSN
0148-7299

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Parental origin of the isochromosome 12p
✍ Struthers, J.L.; Cuthbert, C.D.; Khalifa, M.M. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 36 KB πŸ‘ 2 views

Pallister-Killian syndrome (PKS) is characterized by multiple congenital anomalies including pigmentary skin changes, mental retardation, and the mosaic presence of a tissue-limited isochromosome 12p [i(12p)]. Mechanism(s) of formation and parental origin of the isochromosome are not well understood