关键词: congenital thrombocytopenia deformed radius
Mesh : Abnormalities, Multiple / genetics Adolescent Adult Alleles Child Chromosome Deletion Chromosomes, Human, Pair 1 / genetics Congenital Bone Marrow Failure Syndromes / genetics Family Female Heterozygote Humans Male Megalencephaly / genetics Pedigree Phenotype Polymorphism, Single Nucleotide / genetics RNA-Binding Proteins / genetics Radius Siblings Syndrome Thrombocytopenia / genetics Upper Extremity Deformities, Congenital / genetics
来 源:
DOI:10.1101/mcs.a004564
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