A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features
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DOI: 10.1111/cge.14126
Abstract: We report four children from three related families who presented with a similar phenotype characterized by developmental delay, hypotonia, seizures, failure‐to‐thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations. They also shared common… read more here.
Keywords: genitourinary malformations; developmental delay; proser1; delay hypotonia ... See more keywords