Case report of a familial triple: a syndrome and review of the literature-Reference-Cited by-同舟云学术

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Case report of a familial triple: a syndrome and review of the literature

Published:2020-05-29 Issue:22 Volume:99 Page:e20474
ISSN:0025-7974
Container-title:Medicine
language:en
Short-container-title:

Author:

Gaiani Federica,Gismondi Pierpacifico,Minelli Roberta,Casadio Giovanni,de’Angelis Nicola,Fornaroli Fabiola,de’Angelis Gian Luigi,Manfredi Marco

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference31 articles.

1. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene;Handschug;Hum Mol Genet,2001

2. Triple A syndrome: genotype-phenotype assessment;Prpic;Clin Genet,2003

3. Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature;Patt;Endocr Connect,2017

4. 4A syndrome: ocular surface investigation in an Italian young patient;Aragona;BMC Ophthalmol,2014

5. Allgrove or 4 “A” syndrome: an autosomal recessive syndrome causing multisystem neurological disease;Kimber;J Neurol Neurosurg Psychiatry,2003

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2. Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis;Molecular Syndromology;2023-09-29

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