Clinical genetics
Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome.
Iftekhar A Showpnil, Neta Feinstein-Goren, Lior Greenbaum, Ortal Barel, Daniel C Koboldt, Samantha A Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode-Shakked, Rolf W Stottmann
Published: 202510.1111/cge.70101
Abstract
A recurrent de novo germline variant in the MAX gene, p.(Arg60Gln), has recently been associated with polydactyly-macrocephaly syndrome in six unrelated individuals. Affected individuals presented with progressive macrocephaly, post-axial polydactyly…
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