Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1592
Abstract: Recent studies suggest that duplication of the 9p24.3 chromosomal locus, which includes the DOCK8 and KANK1 genes, is associated with autism spectrum disorders (ASD), intellectual disability/developmental delay (ID/DD), learning problems, language disorders, hyperactivity, and epilepsy.… read more here.
Keywords: duplication; patients phenotypes; unrelated patients; 9p24 three ... See more keywords
RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical genetics"
DOI: 10.1111/cge.14343
Abstract: Biallelic pathogenic variants in RNASEH2C cause Aicardi-Goutières syndrome 3 (AGS3, MIM #610329), a rare early-onset encephalopathy characterized by intermittent unexplained fever, chilblains, irritability, progressive microcephaly, dystonia, spasticity, severe psychomotor retardation and abnormal brain imaging. Currently,… read more here.
Keywords: rnaseh2c 194g; three unrelated; res syndrome; gouti res ... See more keywords
The novel HLA‐C*06:327 allele was identified in three unrelated bone marrow donors
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DOI: 10.1111/tan.14749
Abstract: HLA‐C*06:327 has one non‐synonymous nucleotide change from C*06:02:01:01 at codon 222. read more here.
Keywords: allele identified; 327 allele; three unrelated; identified three ... See more keywords