关键词: KMT2A Wiedemann-Steiner syndrome hairiness histone methylation hypertrichosis intellectual disability
Mesh : Adolescent Amino Acid Substitution Child Child, Preschool Disease Susceptibility Female France High-Throughput Nucleotide Sequencing Histone-Lysine N-Methyltransferase / genetics Humans Intellectual Disability / diagnosis etiology Magnetic Resonance Imaging Male Mutation Myeloid-Lymphoid Leukemia Protein / genetics Phenotype Syndrome Tomography, X-Ray Computed
来 源:
DOI:10.1111/cge.13254
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