Somatic mosaicism for NF1 pathogenic variant detected by peripheral-blood exome sequencing in a patient with colon and lung cancers and no apparent clinical signs of Neurofibromatosis type 1.

被引：0

作者：

Carriero, Miriam ^{[1
]}

Graziani, Ludovico ^{[1
]}

Agolini, Emanuele ^{[2
]}

Bengala, Mario ^{[3
]}

Novelli, Antonio ^{[2
]}

Biancolella, Michela ^{[4
]}

Novelli, Giuseppe ^{[1
,3
]}

机构：

[1] Tor Vergata Univ Rome, Dept Biomed & Prevent, Rome, Italy

[2] Bambino Gesu Pediat Hosp, Translat Cytogen Res Unit, Rome, Italy

[3] Tor Vergata Univ Hosp, Med Genet Unit, Rome, Italy

[4] Tor Vergata Univ Rome, Dept Biol, Rome, Italy

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

EP01.053

引用

页码：920 / 920

页数：1

共 5 条

[1] Somatic mosaicism for NF1 gene deletion in neurofibromatosis type 1.
Rasmussen, SA
Colman, SD
Ho, VT
Abernathy, CR
Wallace, MR
JOURNAL OF INVESTIGATIVE MEDICINE, 1996, 44 (01) : A64 - A64
[2] Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy
Pourirahim, Maryam
Houshmand, Golnaz
Abdolkarimi, Leyla
Maleki, Majid
Kalayinia, Samira
BMC CARDIOVASCULAR DISORDERS, 2024, 24 (01)
[3] Novel Mutation C.7348C>T in NF1 Gene Identified by Whole-Exome Sequencing in Patient with Overlapping Clinical Symptoms of Neurofibromatosis Type 1 and Bannayan–Riley–Ruvalcaba Syndrome
Hasan Edris Sharif Rahmani
Mohammad Foad Azarpara
Mohammad Reza Abazari
Maryam Mohajeri
Raziyeh Nasimi
Arghavan Ghorbani
Hamzeh Azizpour
Cytology and Genetics, 2020, 54 : 353 - 362
[4] Novel Mutation C.7348C>T in NF1 Gene Identified by Whole-Exome Sequencing in Patient with Overlapping Clinical Symptoms of Neurofibromatosis Type 1 and Bannayan-Riley-Ruvalcaba Syndrome
Rahmani, Edris Sharif
Azarpara, Hasan
Abazari, Mohammad Foad
Mohajeri, Mohammad Reza
Nasimi, Maryam
Ghorbani, Raziyeh
Azizpour, Arghavan
Rahimi, Hamzeh
CYTOLOGY AND GENETICS, 2020, 54 (04) : 353 - 362
[5] Generation of two human induced pluripotent stem cell lines from a patient with Neurofibromatosis type 1 (NF1) and pathogenic NF1 gene variant c.1466 A>G BCRTi011-A as well as a first-degree healthy relative (BCRTi010-A)
Batool, Lilas
Storozhuk, Olha
Raab, Constanze
Beez, Christien Madlen
Selig, Mareike
Harder, Anja
Kurtz, Andreas
STEM CELL RESEARCH, 2023, 71

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