title: Detection of carrier status and mutations in family members of a child with complete deletion of the DAX1 gene using multiplex ligation-dependent probe amplification.
authors.forename: Nikhil D
authors.initials: ND
authors.lastname: Phadke
authors.forename: Kavita A
authors.initials: KA
authors.lastname: Khatod
authors.forename: Ruchi
authors.initials: R
authors.lastname: Nadar
authors.forename: Vaman V
authors.initials: VV
authors.lastname: Khadilkar
authors.forename: Anuradha V
authors.initials: AV
authors.lastname: Khadilkar
mesh_terms: D002648:Child; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics*; D053938:DNA Fragmentation; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D060885:Multiplex Polymerase Chain Reaction; D010375:Pedigree
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; C539965:NR0B1 protein, human