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 4.75...

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Detalles Bibliográficos
Autores principales: Patt, Hiren, Koehler, Katrin, Lodha, Sailesh, Jadhav, Swati, Yerawar, Chaitanya, Huebner, Angela, Thakkar, Kunal, Arya, Sneha, Nair, Sandhya, Goroshi, Manjunath, Ganesh, Hosahithlu, Sarathi, Vijaya, Lila, Anurag, Bandgar, Tushar, Shah, Nalini
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705786/
https://www.ncbi.nlm.nih.gov/pubmed/29180348
http://dx.doi.org/10.1530/EC-17-0255

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