Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature

Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature

Objective: To study genotype–phenotype spectrum of triple A syndrome (TAS). Methods: Retrospective chart analysis of Indian TAS patients (cohort 1, n = 8) and review of genotyped TAS cases reported in world literature (cohort 2, n = 133, 68 publications). Results: Median age at presentation was 4....

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Bibliographic Details
Main Authors: Hiren Patt, Katrin Koehler, Sailesh Lodha, Swati Jadhav, Chaitanya Yerawar, Angela Huebner, Kunal Thakkar, Sneha Arya, Sandhya Nair, Manjunath Goroshi, Hosahithlu Ganesh, Vijaya Sarathi, Anurag Lila, Tushar Bandgar, Nalini Shah
Format: Article
Language:English
Published: Bioscientifica 2017-11-01
Series:Endocrine Connections
Subjects:
Allgrove syndrome
triple A syndrome
primary adrenal insufficiency
ALADIN
AAAS gene
Online Access:http://www.endocrineconnections.com/content/6/8/901.full

Internet

http://www.endocrineconnections.com/content/6/8/901.full

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