A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive
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DOI: 10.1002/humu.24337
Abstract: The NFE2L1 transcription factor (also known as Nrf1 for nuclear factor erythroid 2‐related factor‐1) is a broadly expressed basic leucine zipper protein that performs a critical role in the cellular stress response pathway. Here, we… read more here.
Keywords: developmental delay; delay hypotonia; nfe2l1 transcription; factor ... See more keywords
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