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Single Exon Deletion in One COL2A1 Allele in Spondyloepiphyseal Dysplasia

โœ Scribed by BRENDAN LEE; HENRIK VISSING; FRANCESCO RAMIREZ; DAVID ROGERS; DAVID RIMOIN


Book ID
119864247
Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
99 KB
Volume
580
Category
Article
ISSN
0890-6564

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Low basal transcripts of the COL2A1 coll
โœ Winnie Yang; Dr. William G. Cole ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 260 KB

## Pelmen Kniest dysplasia is a severe form of spondyloepiphyseal dysplasia with short-trunk dwarfism, kyphosc?liosis, enlarged joints, midface hypoplasia, cleft palate, myopia, and deafness (Spranger et al., 1994). Heterozygous mutations of COL2A1 that encodes the a1 (11) chains of type I1 collage