Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis

Mohamed Kazamel; Michael A. Lopez; Martina Bebin; Kevin Bowling; Bruce R. Korf; Gregory S. Barsh; Gregory M. Cooper; Anna C.E. Hurst; Eroboghene E. Ubogu

doi:10.1212/NXG.0000000000000476

Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis

Mohamed Kazamel, Michael A. Lopez, Martina Bebin, Kevin Bowling, Bruce R. Korf, Gregory S. Barsh, Gregory M. Cooper, Anna C.E. Hurst, Eroboghene E. Ubogu

Division of Laboratory and Genomic Medicine

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

Original language	English
Article number	e476
Journal	Neurology: Genetics
Volume	6
Issue number	4
DOIs	https://doi.org/10.1212/NXG.0000000000000476
State	Published - 2020

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10.1212/NXG.0000000000000476

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@article{d5f5b87b901f48caa0bc6a1f620ff50e,

title = "Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis",

author = "Mohamed Kazamel and Lopez, {Michael A.} and Martina Bebin and Kevin Bowling and Korf, {Bruce R.} and Barsh, {Gregory S.} and Cooper, {Gregory M.} and Hurst, {Anna C.E.} and Ubogu, {Eroboghene E.}",

note = "Funding Information: The Article Processing Charge was funded by the authors.",

year = "2020",

doi = "10.1212/NXG.0000000000000476",

language = "English",

volume = "6",

journal = "Neurology: Genetics",

issn = "2376-7839",

number = "4",

}

TY - JOUR

T1 - Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis

AU - Kazamel, Mohamed

AU - Lopez, Michael A.

AU - Bebin, Martina

AU - Bowling, Kevin

AU - Korf, Bruce R.

AU - Barsh, Gregory S.

AU - Cooper, Gregory M.

AU - Hurst, Anna C.E.

AU - Ubogu, Eroboghene E.

N1 - Funding Information: The Article Processing Charge was funded by the authors.

PY - 2020

Y1 - 2020

UR - http://www.scopus.com/inward/record.url?scp=85103239393&partnerID=8YFLogxK

U2 - 10.1212/NXG.0000000000000476

DO - 10.1212/NXG.0000000000000476

M3 - Article

AN - SCOPUS:85103239393

SN - 2376-7839

VL - 6

JO - Neurology: Genetics

JF - Neurology: Genetics

IS - 4

M1 - e476

ER -

Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis

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