Detection of the Heterozygous Recurrent MAX p.( Arg60Gln ) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Fuente: Wiley Open Access

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Bibliographic Details
Main Authors:	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
Format:	Artículo Open Access
Published:	Wiley 2025
Subjects:	Clinical Genetics
Online Access:	Acceder al recurso
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