Targeted/Exome Sequencing Identified Mutations in 55 Chinese Children Diagnosed with Noonan Syndrome and a Autosomal Recessive Form Associated With LZTR1 Variants

被引：0

作者：

Li, Xin ^{[1
]}

Yao, Ruen ^{[1
]}

Chen, Yao ^{[1
]}

Chang, Guoying ^{[1
]}

Ding, Yu ^{[1
]}

Li, Juan ^{[1
]}

Shen, Yiping ^{[2
]}

Wang, Xiumin ^{[1
]}

Wang, Jian ^{[1
]}

机构：

[1] Shanghai Childrens Med Ctr, Shanghai, Peoples R China

[2] Boston Childrens Hosp, Boston, MA USA

来源：

HORMONE RESEARCH IN PAEDIATRICS | 2018年 / 90卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

P2-P264

引用

页码：446 / 446

页数：1

共 37 条

[1] Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
Johnston, Jennifer J.
van der Smagt, Jasper J.
Rosenfeld, Jill A.
Pagnamenta, Alistair T.
Alswaid, Abdulrahman
Baker, Eva H.
Blair, Edward
Borck, Guntram
Brinkmann, Julia
Craigen, William
Vu Chi Dung
Emrick, Lisa
Everman, David B.
van Gassen, Koen L.
Gulsuner, Suleyman
Harr, Margaret H.
Jain, Mahim
Kuechler, Alma
Leppig, Kathleen A.
McDonald-McGinn, Donna M.
Ngoc Thi Bich Can
Peleg, Amir
Roeder, Elizabeth R.
Rogers, R. Curtis
Sagi-Dain, Lena
Sapp, Julie C.
Schaffer, Alejandro A.
Schanze, Denny
Stewart, Helen
Taylor, Jenny C.
Verbeek, Nienke E.
Walkiewicz, Magdalena A.
Zackai, Elaine H.
Zweier, Christiane
Zenker, Martin
Lee, Brendan
Biesecker, Leslie G.
GENETICS IN MEDICINE, 2018, 20 (10) : 1175 - 1185
[2] Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 Variants
Perin, Francesca
Pablo Trujillo-Quintero, Juan
Jimenez-Jaimez, Juan
Rodriguez-Vazquez del Rey, Maria del Mar
Monserrat, Lorenzo
Tercedor, Luis
REVISTA ESPANOLA DE CARDIOLOGIA, 2019, 72 (11): : 978 - 980
[3] Recessive and dominant patterns in Noonan Syndrome associated with LZTR1 variants
Cambra, A.
Lopez-Blazquez, M.
Sanchez del Pozo, J.
Cruz-Rojo, J.
Guemes, M.
Carcavilla, A.
Seidel, V.
Medrano, C.
Ezquieta, B.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 223 - 223
[4] Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders
Xu, Shanshan
Fan, Yanjie
Sun, Yu
Wang, Lili
Gu, Xuefan
Yu, Yongguo
BMC MEDICAL GENOMICS, 2017, 10
[5] Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders
Shanshan Xu
Yanjie Fan
Yu Sun
Lili Wang
Xuefan Gu
Yongguo Yu
BMC Medical Genomics, 10
[6] Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities
Yu, Qiu-Xia
Zhen, Li
Lin, Xiao-Mei
Wen, Yun-Jing
Li, Dong-Zhi
PRENATAL DIAGNOSIS, 2023, 43 (13) : 1662 - 1665
[7] Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants
Nakaguma, Marilena
Jorge, Alexander A. L.
Arnhold, Ivo J. P.
GENETICS IN MEDICINE, 2019, 21 (01) : 260 - 260
[8] Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
Yamamoto, Guilherme Lopes
Aguena, Meire
Gos, Monika
Hung, Christina
Pilch, Jacek
Fahiminiya, Somayyeh
Abramowicz, Anna
Cristian, Ingrid
Buscarilli, Michelle
Naslavsky, Michel Satya
Malaquias, Alexsandra C.
Zatz, Mayana
Bodamer, Olaf
Majewski, Jacek
Jorge, Alexander A. L.
Pereira, Alexandre C.
Kim, Chong Ae
Passos-Bueno, Maria Rita
Bertola, Debora Romeo
JOURNAL OF MEDICAL GENETICS, 2015, 52 (06) : 413 - 421
[9] Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants Response
Biesecker, Leslie G.
GENETICS IN MEDICINE, 2019, 21 (01) : 261 - 261
[10] NOVEL LZTR1 GENE VARIANTS ASSOCIATED TO NOONAN SYNDROME AND GROWTH HORMONE DEFICIENCY
Nakaguma, Marilena
Jorge, Alexander A. L.
Mariana, Funari F. A.
Antonio, Lerario M.
Fernanda, Correa A.
Luciani, Carvalho R. S.
Berenice, Mendonca B.
Arnhold, Ivo J.
HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 151 - 152

← 1 2 3 4 →