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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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The Xq22.3 contiguous gene deletion syndrome (ATS-ID): from genotype to further delineation of the phenotype

ABSTRACT: Large Xq22.3 deletion in Czech family inherited from unaffaceted mother leading to manifestation of X-linked contiguous gene deletion syndrome known as Alport syndrome with intellectual disability (ATS-ID) or AMME complex (OMIM #300194)

INSTRUMENT(S): Agilent DNA Microarray Scanner

ORGANISM(S): Homo sapiens

SUBMITTER: Jan Smetana

PROVIDER: E-MTAB-8324 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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The Xq22.3 contiguous gene deletion syndrome (ATS-ID): from genotype to further delineation of the phenotype

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