Coriell Institute for Medical Research

Publication

Sharma P, McFadden JR, Frost FG, Markello TC, Grange DK, Introne WJ, Gahl WA, Malicdan MCV, Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features Human genetics143:1445-1457 2024
PubMed ID: 39453476

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