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Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

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author: Denise Horn  William B. Dobyns  Christine Zeschnigk  Kristina Lagerstedt Robinson  Ketil R. Heimdal  Maya Chopra 

Publication date October 17, 2012
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