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Clinical diagnosis of triple A syndrome was confirmed by sequencing the entire coding region including exon-intron boundaries of the<\/jats:p>","DOI":"10.1515\/jpem-2014-0401","type":"journal-article","created":{"date-parts":[[2015,7,13]],"date-time":"2015-07-13T08:57:51Z","timestamp":1436777871000},"source":"Crossref","is-referenced-by-count":8,"title":["Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty"],"prefix":"10.1515","volume":"28","author":[{"given":"Haidar","family":"Bustanji","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bashar","family":"Sahar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Huebner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamel","family":"Ajlouni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dana","family":"Landgraf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanan","family":"Hamamy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrin","family":"Koehler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref51","first-page":"263","article-title":"Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of independent patients with the frequent p Pro mutation","volume":"17","author":"Milenkovic","year":"2008","journal-title":"Eur J Pediatr"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1097\/GIM.0b013e318217477f","article-title":"marriages pearls perils International Consanguinity Workshop Report","volume":"13","author":"Hamamy","year":"2011","journal-title":"Genet Med"},{"key":"ref91","first-page":"277","article-title":"resistance syndromes","volume":"12","author":"Huebner","year":"1999","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/j.ymgme.2007.08.116","article-title":"Du BH An Alu - 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