Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases

    May 2019 in “ European Journal of Human Genetics ”
    Patrick R. Blackburn, Cinthya J. Zepeda-Mendoza, Teresa M. Kruisselbrink … Dusica Babovic‐Vuksanovic
    Studysummary This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
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