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Phenotypic Analysis of Individuals With Costello Syndrome due to HRAS p.G13C
Download from www.ncbi.nlm.nih.govDeletion of NSD1 exon 14 in Sotos syndrome: first description.
Download from link.springer.comPORCNmutations in focal dermal hypoplasia: coping with lethality
Download from www.researchgate.netPORCN Mutations in Focal Dermal Hypoplasia: Coping with Lethality
UploadQ289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
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