DNA-seq to investigate a novel frameshift variant in the ASXL3 gene in a patient with phenotypic features of Bainbridge-Ropers syndrome

ABSTRACT: We performed a targeted NGS using the commercial gene panel design ClearSeq Inherited Disease (Agilent Technologies) to identify the pathogenic sequence variants in a girl presenting an apparent microcephaly with mild dysmorphic facial features, delayed psychomotoric development and central hypotonia.

INSTRUMENT(S): Illumina MiSeq

ORGANISM(S): Homo sapiens

SUBMITTER: Marketa Wayhelova 

PROVIDER: E-MTAB-7026 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress