Clinical variability of BBS1 across siblings

Vanna Giang; Sarah R. Weber; Jeffrey M. Sundstrom

doi:10.1136/bcr-2024-261874

Clinical variability of BBS1 across siblings

Vanna Giang, Sarah R. Weber, Jeffrey M. Sundstrom

Research output: Contribution to journal › Article › peer-review

Abstract

Bardet-Biedl syndrome (BBS), an autosomal recessive ciliopathy with pleiotropic effects, manifests as a spectrum of anomalies involving multiple genes and affects fewer than 3,000 individuals in the USA. Due to its rarity and phenotypic variability, early diagnosis of BBS poses a significant challenge. Therefore, we aim to shed light on the intrafamilial phenotypic variation of BBS resulting from a BBS1 variant by delineating the clinical presentation in two siblings.

Original language	English (US)
Article number	e261874
Journal	BMJ case reports
Volume	17
Issue number	12
DOIs	https://doi.org/10.1136/bcr-2024-261874
State	Published - Dec 10 2024

All Science Journal Classification (ASJC) codes

General Medicine

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10.1136/bcr-2024-261874

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title = "Clinical variability of BBS1 across siblings",

abstract = "Bardet-Biedl syndrome (BBS), an autosomal recessive ciliopathy with pleiotropic effects, manifests as a spectrum of anomalies involving multiple genes and affects fewer than 3,000 individuals in the USA. Due to its rarity and phenotypic variability, early diagnosis of BBS poses a significant challenge. Therefore, we aim to shed light on the intrafamilial phenotypic variation of BBS resulting from a BBS1 variant by delineating the clinical presentation in two siblings.",

author = "Vanna Giang and Weber, {Sarah R.} and Sundstrom, {Jeffrey M.}",

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AU - Weber, Sarah R.

AU - Sundstrom, Jeffrey M.

N1 - Publisher Copyright: © BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

PY - 2024/12/10

Y1 - 2024/12/10

N2 - Bardet-Biedl syndrome (BBS), an autosomal recessive ciliopathy with pleiotropic effects, manifests as a spectrum of anomalies involving multiple genes and affects fewer than 3,000 individuals in the USA. Due to its rarity and phenotypic variability, early diagnosis of BBS poses a significant challenge. Therefore, we aim to shed light on the intrafamilial phenotypic variation of BBS resulting from a BBS1 variant by delineating the clinical presentation in two siblings.

AB - Bardet-Biedl syndrome (BBS), an autosomal recessive ciliopathy with pleiotropic effects, manifests as a spectrum of anomalies involving multiple genes and affects fewer than 3,000 individuals in the USA. Due to its rarity and phenotypic variability, early diagnosis of BBS poses a significant challenge. Therefore, we aim to shed light on the intrafamilial phenotypic variation of BBS resulting from a BBS1 variant by delineating the clinical presentation in two siblings.

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JO - BMJ case reports

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Clinical variability of BBS1 across siblings

Abstract

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