Article
Longitudinal Insights Into Polydactyly-Macrocephaly Syndrome: A Case Report of an Adult With a Recurrent MAX Variant.
American journal of medical genetics. Part A - 1 Nov 2025
de Oliveira Reyner S, Henriques Karina F, Lima Samyra E, Cordoba Mara S, Pic-Taylor Aline, Oliveira Silviene F, Mazzeu Juliana F
Abstract excerpt
As genetic sequencing technologies-particularly whole-exome sequencing-have become readily accessible, their role has progressively shifted from identifying candidate genes for old or new syndromes to elucidating the etiology of ultra-rare disorders, where the population of affected individuals is frequently scarce and challenging to study. A newly described syndromic disorder, Polydactyly-Macrocephaly Syndrome...
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