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UnknownDeleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Not available
S-EPMC6874899 | biostudies-literature
UnknownRecurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Not available
S-EPMC9069069 | biostudies-literature
UnknownDe novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Not available
S-EPMC11338827 | biostudies-literature
UnknownBiallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Not available
S-EPMC10620944 | biostudies-literature
UnknownBiallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Not available
S-EPMC10932913 | biostudies-literature
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