Identification of a novel TGFB1 variant in a patient with Camurati-Engelmann disease responsive to alendronate

Neelam Hassan; Celia L Gregson; Michael Oldridge; Tracy Lester; Emma L Duncan; Jonathan H Tobias

doi:10.1093/rheumatology/keaf441

Identification of a novel TGFB1 variant in a patient with Camurati-Engelmann disease responsive to alendronate

Neelam Hassan^*
, Celia L Gregson
, Michael Oldridge
, Tracy Lester
, Emma L Duncan
, Jonathan H Tobias

^*Corresponding author for this work

Research output: Contribution to journal › Letter (Academic Journal) › peer-review

Abstract

Whole genome sequencing and alendronate may be of value in diagnosing and managing CED, respectively.

Original language	English
Pages (from-to)	6427-6429
Number of pages	3
Journal	Rheumatology
Volume	64
Issue number	12
Early online date	14 Aug 2025
DOIs	https://doi.org/10.1093/rheumatology/keaf441
Publication status	Published - 1 Dec 2025

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@article{1f50ba5846f54a5488a07a66570ef86a,

title = "Identification of a novel TGFB1 variant in a patient with Camurati-Engelmann disease responsive to alendronate",

abstract = "Whole genome sequencing and alendronate may be of value in diagnosing and managing CED, respectively.",

author = "Neelam Hassan and Gregson, \{Celia L\} and Michael Oldridge and Tracy Lester and Duncan, \{Emma L\} and Tobias, \{Jonathan H\}",

note = "Copyright {\textcopyright} 2025, {\textcopyright} The Author(s) 2025. Published by Oxford University Press on behalf of the British Society for Rheumatology.",

year = "2025",

month = dec,

day = "1",

doi = "10.1093/rheumatology/keaf441",

language = "English",

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TY - JOUR

T1 - Identification of a novel TGFB1 variant in a patient with Camurati-Engelmann disease responsive to alendronate

AU - Hassan, Neelam

AU - Gregson, Celia L

AU - Oldridge, Michael

AU - Lester, Tracy

AU - Duncan, Emma L

AU - Tobias, Jonathan H

PY - 2025/12/1

Y1 - 2025/12/1

N2 - Whole genome sequencing and alendronate may be of value in diagnosing and managing CED, respectively.

AB - Whole genome sequencing and alendronate may be of value in diagnosing and managing CED, respectively.

U2 - 10.1093/rheumatology/keaf441

DO - 10.1093/rheumatology/keaf441

M3 - Letter (Academic Journal)

C2 - 40811023

SN - 1462-0324

VL - 64

SP - 6427

EP - 6429

JO - Rheumatology

JF - Rheumatology

IS - 12

ER -

Identification of a novel TGFB1 variant in a patient with Camurati-Engelmann disease responsive to alendronate

Abstract

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