Author(s): Rolfs, Prof. Arndt, MD, Eichler, Sabrina, PhD, Ramirez-Botero, Andres Felipe, MD, Pachajoa, Harry, MD PhD
In this case report a novel PORCN heterozygous nonsense mutation was detected in exon 2 on the patient genetically diagnosing focal dermal hypoplasia. Read more!
Focal dermal hypoplasia is an unusual genetic disease that affects ectodermal and mesodermal derivatives. This is the case of an eight year old female from Colombia with multiple congenital malformations.
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