A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report

Bardet-Biedl Syndrome (BBS) is an autosomal recessive systemic disorder characterized by retinitis pigmentosa, polydactyly, obesity, intellectual disability, renal impairments, and hypogonadism. The purpose of this study was to determine the ocular characteristics of a boy with BBS caused by a novel...

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Detalles Bibliográficos
Autores principales: Mizumoto, Keitaro, Kato, Kumiko, Fujinami, Kaoru, Sugita, Tadasu, Sugita, Iichiro, Hattori, Ayako, Saitoh, Shinji, Ueno, Shinji, Tsunoda, Kazushige, Iwata, Takeshi, Kondo, Mineo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
5800
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9771268/
https://www.ncbi.nlm.nih.gov/pubmed/36550847
http://dx.doi.org/10.1097/MD.0000000000032161

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