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Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in thePORCNgene (c.1250T>C:p.F417S) and unusual spinal anomaly

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Description scientific article published on 21 May 2013
Author/s

author: Caterina Longo  Marco Pavanello  Sheila Unger  Andrea Superti-Furga  Gustavo Savino 

Publication date May 21, 2013
Language English
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