Author:
Milani Donatella,Cerutti Marta,Pezzani Lidia,Maffei Pietro,Milan Gabriella,Esposito Susanna
Publisher
Springer Science and Business Media LLC
Reference17 articles.
1. D’Angelo CS, Kohl I, Varela MC, de Castro CI, Kim CA, Bertola DR, Lourenço CM, Perez AB, Koiffmann CP: Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants. Am J Med Genet A. 2013, 161 (Suppl 3): 479-486.
2. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA: Criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet A. 1999, 36 (Suppl 6): 437-446.
3. Alstrom CH, Halgren B, Nilsson LB, Asander H: Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand Suppl. 1959, 129: 1-35.
4. Marshall JD, Maffei P, Collin GB, Naggert JK: Alström syndrome: genetics and clinical overview. Curr Genomics. 2011, 12: 225-235. 10.2174/138920211795677912.
5. Aliferis K, Hellé S, Gyapay G, Duchatelet S, Stoetzel C, Mandal JL, Dollfus H: Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing. Ophthalmic Genet. 2012, 33 (Suppl 1): 18-22.
Cited by
15 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献