Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

被引：109
作者：
Volpi, Ludovica [2 ]
Roversi, Gaia [1 ,3 ]
Colombo, Elisa Adele [1 ]
Leijsten, Nico [4 ,5 ]
Concolino, Daniela [6 ]
Calabria, Andrea [7 ]
Mencarelli, Maria Antonietta [8 ]
Fimiani, Michele [9 ]
Macciardi, Fabio [10 ]
Pfundt, Rolph [4 ,5 ]
Schoenmakers, Eric F. P. M. [4 ,5 ]
Larizza, Lidia [1 ]
机构：
[1] Univ Milan, Dipartimento Med Chirurg & Odontoiatria, I-20142 Milan, Italy
[2] Univ Milan, Dipartimento Biol & Genet Sci Med, I-20133 Milan, Italy
[3] Ist Nazl Tumori, Fdn IRCCS, Unit Med Genet, I-20133 Milan, Italy
[4] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
[5] Nijmegen Ctr Mol Life Sci, NL-6500 HB Nijmegen, Netherlands
[6] Univ Catanzaro, Dipartimento Pediat, I-88100 Catanzaro, Italy
[7] CNR, Inst Biomed Technol, I-20138 Milan, Italy
[8] Univ Siena, Dept Mol Biol, I-53100 Siena, Italy
[9] Univ Siena, Dermatol Clin, I-53100 Siena, Italy
[10] Univ Milan, Dipartimento Sci & Tecnol Biomed, I-20138 Milan, Italy
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2010年 / 86卷 / 01期
关键词：
ROTHMUND-THOMSON-SYNDROME;
D O I：
10.1016/j.ajhg.2009.11.014
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：72 / 76
页数：5
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