Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members

INTRODUCTION: Bardet-Biedl syndrome (BBS) is a rare genetic syndrome caused by a mutation in one of 26 different genes responsible for normal structure and/or function of primary cilia. The syndrome is characterized by multiorgan involvement with gradual onset of occurrence of clinical signs and sym...

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Detalles Bibliográficos
Autores principales: Simičić Majce, Ana, Tudor, Darija, Simunovic, Marko, Todorovic, Marko, Parlov, Mladenka, Lozic, Bernarda, Saraga-Babić, Mirna, Saraga, Marijan, Arapović, Adela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352915/
https://www.ncbi.nlm.nih.gov/pubmed/37469681
http://dx.doi.org/10.3389/fped.2023.1226595

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352915/
https://www.ncbi.nlm.nih.gov/pubmed/37469681
http://dx.doi.org/10.3389/fped.2023.1226595

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