Structural chromosome disruption of the NR3C2 gene causing pseudohypoaldosteronism type 1 presenting in infancy.

O'Connell, Susan M; Johnson, Stephanie R; Lewis, Barry D; Staltari, Louise; Peverall, Joanne; Ly, Trang; Martin, Andrew C; Jones, Timothy W; Price, Glynis J; Murch, Ashleigh; Choong, Catherine S Y

O'Connell, Susan M; Johnson, Stephanie R; Lewis, Barry D; Staltari, Louise; Peverall, Joanne; Ly, Trang; Martin, Andrew C; Jones, Timothy W; Price, Glynis J; Murch, Ashleigh; Choong, Catherine S Y.

Affiliation

O'Connell SM; Department of Endocrinology, Princess Margaret Hospital for Children, Perth, Western Australia, Australia. SusanMary.O'Connell@health.wa.gov.au

J Pediatr Endocrinol Metab ; 24(7-8): 555-9, 2011.

Article in En | MEDLINE | ID: mdl-21932599

Subject(s)

Chromosome Inversion; Failure to Thrive/etiology; Pseudohypoaldosteronism/congenital; Pseudohypoaldosteronism/genetics; Receptors, Glucocorticoid/genetics; Receptors, Mineralocorticoid/genetics; Chromosomes, Human, Pair 4/genetics; Dietary Supplements; Female; Humans; Hyponatremia/etiology; Infant; Pseudohypoaldosteronism/blood; Pseudohypoaldosteronism/diet therapy; Sodium Chloride/therapeutic use; Treatment Outcome

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Collection: 01-internacional Database: MEDLINE Main subject: Pseudohypoaldosteronism / Receptors, Glucocorticoid / Receptors, Mineralocorticoid / Failure to Thrive / Chromosome Inversion Type of study: Etiology_studies Limits: Female / Humans / Infant Language: En Journal: J Pediatr Endocrinol Metab Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2011 Type: Article Affiliation country: Australia

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