Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Transcription profiling by array of human fetuses with polymalformative syndrome and KIF7 mutations


ABSTRACT: We identified KIF7, a major actor of Shh pathway as the responsible gene for a polymalformative syndrome in 3 siblings born from consanguinous parents.
In order to study the expression of Shh pathway actors and to identify deregulation in expression of targets of the pathway, we performed microarray expression analysis with RNA extracted from pulmonary tissues from three mutated fetuses and from three age-match controls

ORGANISM(S): Homo sapiens

DISEASE(S): normal

SUBMITTER: Tania Attié-Bitach 

PROVIDER: E-MEXP-2707 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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