Three Children with Triple A Syndrome due to a Mutation (R478X) in the AAAS Gene

Publisher： Karger

E-ISSN： 1663-2826|61|1|3-6

ISSN： 1663-2818

Source： Hormone Research in Paediatrics, Vol.61, Iss.1, 2004-03, pp. : 3-6

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

A Novel AAAS Gene Mutation (p.R194X) in a Patient with Triple A Syndrome

By  

Hormone Research in Paediatrics, Vol. 65, Iss. 4, 2006-05 ,pp. : 171-176

Karger

Access to resources Recommend Favorite

Response to Growth Hormone Therapy in Children with Noonan Syndrome: Correlation with or without PTPN11 Gene Mutation

By  

Hormone Research in Paediatrics, Vol. 77, Iss. 6, 2012-07 ,pp. : 388-393

Karger

Access to resources Recommend Favorite

Tall Stature, Insulin Resistance, and Disturbed Behavior in a Girl with the Triple X Syndrome Harboring Three SHOX Genes: Offspring of a Father with Mosaic Klinefelter Syndrome but with Two Maternal X Chromosomes

By  

Hormone Research in Paediatrics, Vol. 61, Iss. 5, 2004-04 ,pp. : 205-210

Karger

Access to resources Recommend Favorite

Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome

By  

Hormone Research in Paediatrics, Vol. 86, Iss. 2, 2016-07 ,pp. : 90-93

Karger

Access to resources Recommend Favorite

Pseudohypoaldosteronism Type 1 due to a Novel Mutation in the Mineralocorticoid Receptor Gene

By  

Hormone Research in Paediatrics, Vol. 73, Iss. 6, 2010-04 ,pp. : 482-486

Karger

Access to resources Recommend Favorite