ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
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DOI: 10.1016/j.ajhg.2018.12.007
Abstract: ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. The associated features include growth… read more here.
Keywords: cause syndromic; zmiz1 variants; variants cause; zmiz1 ... See more keywords
Biallelic mutations in P4HTM cause syndromic obesity.
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DOI: 10.2337/db22-1017
Abstract: We previously demonstrated that 50% of children with obesity from consanguineous families from Pakistan carried pathogenic variants in known monogenic obesity genes. Here, we have discovered a novel monogenetic recessive form of severe childhood obesity,… read more here.
Keywords: cause syndromic; mutations p4htm; p4htm cause; biallelic mutations ... See more keywords