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ProteomicsDe novo heterozygous variants in POLR2A cause a neurodevelopmental syndrome with infantile-onset hypotonia
  ABSTRACT POLR2A encodes RPB1, the largest subunit of the RNA polymerase II (pol II) complex, which is responsible for transcription of all ~21,000 protein-encoding genes. Here we describe the first fifteen patients harboring de novo heterozygous variants in POLR2A. The majority presents with profo...
ORGANISM(S): Homo sapiens (Human) 
2019-09-02 | PXD011355 | Pride
Rpb1 De novo heterozygous variants Polr2a Rna polymerase ii 
UnknownNext-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.
Not available
S-EPMC4926250 | biostudies-literature
UnknownDeletion of PREPl causes growth impairment and hypotonia in mice.
Not available
S-EPMC3938459 | biostudies-literature
UnknownVariants in DOCK3 cause developmental delay and hypotonia.
Not available
S-EPMC6777627 | biostudies-literature
TranscriptomicsGene profiling on mandibular arches (MdPA1) from Tbx1+/+ and Tbx1-/- mouse embryos
Velo-cardio-facial syndrome/DiGeorge syndrome/22q11.2 deletion syndrome (22q11DS) patients have a submucous cleft palate, velo-pharyngeal insufficiency associated with hypernasal speech, facial muscle hypotonia and feeding difficulties. Inactivation of both alleles of mouse Tbx1, encoding a T-box tr...
ORGANISM(S): Mus musculus 
2014-05-21 | E-GEOD-30980 | biostudies-arrayexpress
UnknownIdentification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly.
Not available
S-EPMC8615421 | biostudies-literature
UnknownHypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression.
Not available
S-EPMC8607452 | biostudies-literature
UnknownPaediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia.
Not available
S-EPMC6916203 | biostudies-literature
UnknownMulticenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
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S-EPMC10134401 | biostudies-literature
UnknownIncidence of hip problems in developmental central hypotonia: A scoping review.
Not available
S-EPMC11794678 | biostudies-literature
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