The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development - Nagy, Orsolya; Kárteszi, Judit; Hartwig, Marianna; Bertalan, Rita; Jávorszky, Eszter; Erhardt, Éva; Patócs, Attila; Tornóczky, Tamás; Balogh, István; Ujfalusi, Anikó (Molecular biology reports, 2019)
Keywords: Adrenal glands; Animal Anatomy; Animal Biochemistry; Biomedical and Life Sciences; case studies; Copy number; Cytogenetics; Diagnosis; Differences of sex development; Disorder of Sex Development, 46,XY - diagnosis; Disorder of Sex Development, 46,XY - genetics; Disorders of Sex Development - genetics; DNA Copy Number Variations - genetics; DNA microarrays; Etiology; Exons; Exons - genetics; Female; females; Gene deletion; Genes; Genetic screening; Gonadal dysgenesis; Gonads; heterozygosity; Heterozygote; Histology; Humans; karyotyping; Life Sciences; microarray technology; molecular biology; Morphology; Multiplex Polymerase Chain Reaction - methods; Mutation - genetics; Nucleotide sequence; patients; phenotype; Phenotypes; prognosis; Sequence Deletion - genetics; sexual development; Sexual Development - genetics; Short Communication; Steroidogenic Factor 1 - genetics; Testis - abnormalities; Transcription; transcription factors; Gonadal dysgenesis; 46,XY DSD; Novel partial deletion; MLPA; NR5A1