Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation

Marcello Scala; Monica Traverso; Valeria Capra; Maria Stella Vari; Mariasavina Severino; Serena Grossi; Federico Zara; Pasquale Striano; Carlo Minetti

doi:10.1055/s-0039-1688954

Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation

Marcello Scala, Monica Traverso, Valeria Capra, Maria Stella Vari, Mariasavina Severino, Serena Grossi, Federico Zara, Pasquale Striano, Carlo Minetti

Istituto "Giannina Gaslini"

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

Original language	English
Pages (from-to)	268-270
Number of pages	3
Journal	Neuropediatrics
Volume	50
Issue number	4
DOIs	https://doi.org/10.1055/s-0039-1688954
Publication status	Published - Aug 2019

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10.1055/s-0039-1688954

Cite this

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title = "Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation",

author = "Marcello Scala and Monica Traverso and Valeria Capra and Vari, {Maria Stella} and Mariasavina Severino and Serena Grossi and Federico Zara and Pasquale Striano and Carlo Minetti",

year = "2019",

month = aug,

doi = "10.1055/s-0039-1688954",

language = "English",

volume = "50",

pages = "268--270",

journal = "Neuropediatrics",

issn = "0174-304X",

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T1 - Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation

AU - Scala, Marcello

AU - Traverso, Monica

AU - Capra, Valeria

AU - Vari, Maria Stella

AU - Severino, Mariasavina

AU - Grossi, Serena

AU - Zara, Federico

AU - Striano, Pasquale

AU - Minetti, Carlo

PY - 2019/8

Y1 - 2019/8

U2 - 10.1055/s-0039-1688954

DO - 10.1055/s-0039-1688954

M3 - Article

C2 - 31137068

VL - 50

SP - 268

EP - 270

JO - Neuropediatrics

JF - Neuropediatrics

SN - 0174-304X

IS - 4

ER -