Associated Papers
Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.
Bostwick B et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2016
PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.
Fernandes PH et al.
Genetic Testing and Molecular Biomarkers, 2010
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