Article
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.
American journal of medical genetics. Part A - 1 Aug 2012
Schrier Samantha A, Bodurtha Joann N, Burton Barbara, Chudley Albert E, Chiong Mary Anne D, D'avanzo Maria Gabriella, Lynch Sally Ann, Musio Antonio, Nyazov Dmitriy M, Sanchez-Lara Pedro A, Shalev Stavit A, Deardorff Matthew A
Abstract excerpt
Coffin-Siris syndrome (CSS) is a rare, clinically heterogeneous disorder often considered in the setting of cognitive/developmental delay and 5th finger/nail hypoplasia. Due to the clinical variability of facial and other features, this diagnosis is often difficult to confirm clinically and the existence of this disorder as a specific diagnosis has been at times an issue of debate. In an effort to further...
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