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Novel mutation in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene associated with intrafamilial heterogeneity in three boys with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism from India.
Mohan, Sony; Danda, Sumita; Mathai, Sarah; Simon, Anna.
Affiliation
  • Mohan S; Department of Medical Genetics, Christian Medical College and Hospital, Vellore 632004, Tamil Nadu, India.
  • Danda S; Department of Medical Genetics, Christian Medical College and Hospital, Vellore 632004, Tamil Nadu, India.
  • Mathai S; Department of Child Health, Christian Medical College and Hospital, Vellore 632004, Tamil Nadu, India.
  • Simon A; Department of Child Health, Christian Medical College and Hospital, Vellore 632004, Tamil Nadu, India.
Natl Med J India ; 32(3): 141-143, 2019.
Article in En | MEDLINE | ID: mdl-32129306

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DAX-1 Orphan Nuclear Receptor / Hypoadrenocorticism, Familial / Mutation Type of study: Risk_factors_studies / Screening_studies Limits: Adolescent / Adult / Humans / Male Country/Region as subject: Asia Language: En Journal: Natl Med J India Journal subject: MEDICINA Year: 2019 Type: Article Affiliation country: India

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DAX-1 Orphan Nuclear Receptor / Hypoadrenocorticism, Familial / Mutation Type of study: Risk_factors_studies / Screening_studies Limits: Adolescent / Adult / Humans / Male Country/Region as subject: Asia Language: En Journal: Natl Med J India Journal subject: MEDICINA Year: 2019 Type: Article Affiliation country: India