Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
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Author / Creator
Perea-Romero, Irene , Solarat, Carlos , Blanco-Kelly, Fiona , Sanchez-Navarro, Iker , Bea-Mascato, Brais , Martin-Salazar, Eduardo , Lorda-Sanchez, Isabel , Swafiri, Saoud Tahsin , Avila-Fernandez, Almudena , Martin-Merida, Inmaculada , Trujillo-Tiebas, Maria Jose , Carreño, Ester , Jimenez-Rolando, Belen , Garcia-Sandoval, Blanca , Minguez, Pablo , Corton, Marta , Valverde, Diana and Ayuso, Carmen
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by extensive inter- and intra-familial variability, in which oligogenic interactions have been also reported. Our main goal is to elucidate the role of mutational load in the clinical variability of BBS. A cohort of 99 patients from 77 different families with biallelic p...
Alternative Titles
Full title
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
Authors, Artists and Contributors
Author / Creator
Solarat, Carlos
Blanco-Kelly, Fiona
Sanchez-Navarro, Iker
Bea-Mascato, Brais
Martin-Salazar, Eduardo
Lorda-Sanchez, Isabel
Swafiri, Saoud Tahsin
Avila-Fernandez, Almudena
Martin-Merida, Inmaculada
Trujillo-Tiebas, Maria Jose
Carreño, Ester
Jimenez-Rolando, Belen
Garcia-Sandoval, Blanca
Minguez, Pablo
Corton, Marta
Valverde, Diana
Ayuso, Carmen
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_2381f94658ef4843b1e48b9411294e18
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2381f94658ef4843b1e48b9411294e18
Other Identifiers
ISSN
2056-7944
E-ISSN
2056-7944
DOI
10.1038/s41525-022-00311-2
