de novo PHF5A variants cause craniofacial abnormalities and developmental delay

被引：0

作者：

Harms, Frederike ^{[1
]}

Dingemans, Alexander ^{[2
]}

Hempel, Maja ^{[1
,3
]}

Pfundt, Rolph ^{[2
]}

Bierhals, Tatjana ^{[1
]}

Casar, Christian ^{[4
]}

Mueller, Christian ^{[4
]}

Niermeijer, Jikke-Mien ^{[5
]}

Fischer, Jan ^{[6
]}

Jahn, Arne ^{[6
]}

Huebner, Christoph ^{[7
]}

Majore, Silvia ^{[8
]}

Agolini, Emanuele ^{[9
]}

Novelli, Antonio ^{[9
]}

van der Smagt, Jasper ^{[10
]}

Ernst, Robert ^{[10
]}

van Binsbergen, Ellen ^{[10
]}

Kamath, Arveen ^{[11
]}

Downie, Lilian ^{[12
,13
]}

Pais, Lynn ^{[14
]}

White, Sue ^{[12
,13
]}

de Vries, Bert B. A. ^{[2
]}

Kutsche, Kerstin ^{[1
]}

机构：

[1] Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany

[2] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Human Genet, Med Ctr, Nijmegen, Netherlands

[3] Univ Heidelberg Hosp, Inst Human Genet, Heidelberg, Germany

[4] Univ Med Ctr Hamburg Eppendorf, Bioinformat Core, Hamburg, Germany

[5] Elisabeth TweeSteden Hosp, Dept Neurol, Tilburg, Netherlands

[6] Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Inst Clin Genet, Dresden, Germany

[7] Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Dept Neuropaediatr, Dresden, Germany

[8] Sapienza Univ, San Camillo Forlanini Hosp, Div Med Genet, Dept Expt Med, Rome, Italy

[9] IRCCS, Bambino Gesu Children Hosp, Translat Cytogen Res Unit, Lab Med Genet, Rome, Italy

[10] Univ Utrecht, Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands

[11] Univ Hosp Wales, All Wales Med Genom Serv, Cardiff, Wales

[12] Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic, Australia

[13] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia

[14] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, England

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：

P09.015.C

引用

页码：458 / 459

页数：2

共 50 条

[1] De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
Harms, Frederike L.
Dingemans, Alexander J. M.
Hempel, Maja
Pfundt, Rolph
Bierhals, Tatjana
Casar, Christian
Mueller, Christian
Niermeijer, Jikke-Mien F.
Fischer, Jan
Jahn, Arne
Huebner, Christoph
Majore, Silvia
Agolini, Emanuele
Novelli, Antonio
Van der Smagt, Jasper
Ernst, Robert
Van Binsbergen, Ellen
Mancini, Grazia M. S.
Van Slegtenhorst, Marjon
Barakat, Tahsin S.
Wakeling, Emma L.
Kamath, Arveen
Downie, Lilian
Pais, Lynn
White, Susan M.
de Vries, Bert B. A.
Kutsche, Kerstin
GENETICS IN MEDICINE, 2023, 25 (10)
[2] De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias (vol 25, 100927, 2023)
Harms, Frederike L.
Dingemans, Alexander J. M.
Hempel, Maja
Pfundt, Rolph
Bierhals, Tatjana
Casar, Christian
Mueller, Christian
Niermeijer, Jikke-Mien F.
Fischer, Jan
Jahn, Arne
Huebner, Christoph
Majore, Silvia
Agolini, Emanuele
Novelli, Antonio
van der Smagt, Jasper
Ernst, Robert
van Binsbergen, Ellen
Mancini, Grazia M. S.
van Slegtenhorst, Marjon
Barakat, Tahsin Stefan
Wakeling, Emma L.
Kamath, Arveen
Downie, Lilian
Pais, Lynn
White, Susan M.
de Vries, Bert B. A.
Kutsche, Kerstin
GENETICS IN MEDICINE, 2023, 25 (11)
[3] De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review
Chen, Hui
Chen, Yong
Wu, Huaping
Qiu, Xiaolu
Yu, Xiongying
Wang, Ruiyan
Zhong, Jianmin
Peng, Jing
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2023, 111 : 138 - 146
[4] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies
Kohei Hamanaka
Yuji Sugawara
Takeyoshi Shimoji
Tone Irene Nordtveit
Mitsuhiro Kato
Mitsuko Nakashima
Hirotomo Saitsu
Toshimitsu Suzuki
Kazuhiro Yamakawa
Ingvild Aukrust
Gunnar Houge
Satomi Mitsuhashi
Atsushi Takata
Kazuhiro Iwama
Ahmed Alkanaq
Atsushi Fujita
Eri Imagawa
Takeshi Mizuguchi
Noriko Miyake
Satoko Miyatake
Naomichi Matsumoto
European Journal of Human Genetics, 2019, 27 : 378 - 383
[5] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies
Hamanaka, Kohei
Sugawara, Yuji
Shimoji, Takeyoshi
Nordtveit, Tone Irene
Kato, Mitsuhiro
Nakashima, Mitsuko
Saitsu, Hirotomo
Suzuki, Toshimitsu
Yamakawa, Kazuhiro
Aukrust, Ingvild
Houge, Gunnar
Mitsuhashi, Satomi
Takata, Atsushi
Iwama, Kazuhiro
Alkanaq, Ahmed
Fujita, Atsushi
Imagawa, Eri
Mizuguchi, Takeshi
Miyake, Noriko
Miyatake, Satoko
Matsumoto, Naomichi
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 (03) : 378 - 383
[6] De novo variants in MPP5 cause global developmental delay and behavioral changes
Sterling, Noelle
Duncan, Anna R.
Park, Raehee
Koolen, David A.
Shi, Jiahai
Cho, Seo-Hee
Benke, Paul J.
Grant, Patricia E.
Genetti, Casie A.
VanNoy, Grace E.
Juusola, Jane
McWalter, Kirsty
Parboosingh, Jillian S.
Lamont, Ryan E.
Bernier, Francois P.
Smith, Christopher
Harris, David J.
Stegmann, Alexander P. A.
Innes, A. Micheil
Kim, Seonhee
Agrawal, Pankaj B.
HUMAN MOLECULAR GENETICS, 2020, 29 (20) : 3388 - 3401
[7] De novo variants in the lysinedemethylase PHF2 are associated with developmental delay, autistic behavior, and facial dysmorphism
Knaus, Alexej
Wojcik, Miriam
Viktor, Miriam
Grand, Katheryn
Sanchez-Lara, Pedro A.
Hsieh, Tzung-Chien
Bergant, Gaber
Chung, Wendy K.
Geltzeiler, Alexa
Torti, Erin
Krawitz, Peter M.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 294 - 294
[8] De novo variants in FRMDS are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
Lu, Shenzhao
Ma, Mengqi
Mao, Xiao
Bacino, Carlos A.
Jankovic, Joseph
Sutton, V. Reid
Bartley, James A.
Wang, Xueying
Rosenfeld, Jill A.
Beleza-Meireles, Ana
Chauhan, Jaynee
Pan, Xueyang
Li, Megan
Liu, Pengfei
Prescott, Katrina
Amin, Sam
Davies, George
Wangler, Michael F.
Dai, Yuwei
Bellen, Hugo J.
AMERICAN JOURNAL OF HUMAN GENETICS, 2022, 109 (10) : 1932 - 1943
[9] A novel de novo variant in the PHF21A causes craniofacial abnormalities, intellectual disability and skeletal manifestations
Mustafa, Sumayya
Abbas, Safdar
Mahmood, Arif
Khan, Ali Zaman
Zeb, Shah
Khan, Amjad
Umair, Muhammad
CLINICAL GENETICS, 2023, 104 (01) : 142 - 144
[10] De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features
Tokita, Mari J.
Chen, Chun-An
Chitayat, David
Macnamara, Ellen
Rosenfeld, Jill A.
Hanchard, Neil
Lewis, Andrea M.
Brown, Chester W.
Marom, Ronit
Shao, Yunru
Novacic, Danica
Wolfe, Lynne
Wahl, Colleen
Tifft, Cynthia J.
Toro, Camilo
Bernstein, Jonathan A.
Hale, Caitlin L.
Silver, Julia
Hudgins, Louanne
Ananth, Amitha
Hanson-Kahn, Andrea
Shuster, Shirley
Magoulas, Pilar L.
Patel, Vipulkumar N.
Zhu, Wenmiao
Chen, Stella M.
Jiang, Yanjun
Liu, Pengfei
Eng, Christine M.
Batkovskyte, Dominyka
di Ronza, Alberto
Sardiello, Marco
Lee, Brendan H.
Schaaf, Christian P.
Yang, Yaping
Wang, Xia
AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 103 (01) : 154 - 162

← 1 2 3 4 5 →