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ArticleClinical genetics2026

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 et al.PubMed ↗Full text ↗Publisher ↗

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2026
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Full record →Abstract, authors, funding and every citing paper · PMID 41203296