Article
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.
American journal of medical genetics. Part A - 1 May 2016
Urquhart Jill, Roberts Rebecca, de Silva Deepthi, Shalev Stavit, Chervinsky Elena, Nampoothiri Sheela, Sznajer Yves, Revencu Nicole, Gunasekera Romesh, Suri Mohnish, Ellingford Jamie, Williams Simon, Bhaskar Sanjeev, Clayton-Smith Jill
Abstract excerpt
The 3MC syndromes are a group of rare autosomal recessive disorders where the main clinical features are cleft lip and palate, hypertelorism, highly arched eyebrows, caudal appendage, postnatal growth deficiency, and genitourinary tract anomalies. Ophthalmological abnormalities, most notably anterior chamber defects may also be seen. We describe the clinical and molecular findings in 13 individuals with suspected...
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