Article
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
Human genetics - 1 Dec 2003
Cai Juanliang, Goodman Barbara K, Patel Ankita S, Mulliken John B, Van Maldergem Lionel, Hoganson George E, Paznekas William A, Ben-Neriah Ziva, Sheffer Ruth, Cunningham Michael L, Daentl Donna L, Jabs Ethylin Wang
Abstract excerpt
The majority of patients with Saethre-Chotzen syndrome have mutations in the TWIST gene, which codes for a basic helix-loop-helix transcription factor. Of the genetic alterations identified in TWIST, nonsense mutations, frameshifts secondary to small deletions or insertions, and large deletions i...
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