Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome-Reference-Cited by-同舟云学术

Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome

Published:2021-01-07 Issue:3 Volume:185 Page:732-742
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Dassie Francesca¹^ORCID,Lorusso Riccardina¹,Benavides‐Varela Silvia²³,Milan Gabriella¹,Favaretto Francesca¹,Callus Edward⁴⁵,Cagnin Stefano⁶⁷,Reggiani Francesco⁸,Minervini Giovanni⁸,Tosatto Silvio⁸⁹,Vettor Roberto¹,Semenza Carlo¹⁰¹¹,Maffei Pietro¹

Affiliation:

1. DIMED, Università di Padova Padova Italy

2. DPSS, Università di Padova Padova Italy

3. DPG, Università di Padova Padova Italy

4. Clinical Psychology Service, IRCCS Policlinico San Donato Milan Italy

5. Department of Biomedical Sciences for Health Università degli Studi di Milano Milan Italy

6. DiBio, Università di Padova Padova Italy

7. CRIBI Biotechnology Center Università di Padova Padova Italy

8. DSB, Università di Padova Padova Italy

9. CNR Institute of Neuroscience Padova Italy

10. DNS (PNC), Università di Padova Padova Italy

11. IRCCS Ospedale S Camillo Venezia Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62029

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5. Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells

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