谷歌浏览器插件
订阅小程序
在清言上使用
VIPCreated with Sketch.

Biallelic PRMT7 Pathogenic Variants Are Associated with a Recognizable Syndromic Neurodevelopmental Disorder with Short Stature, Obesity, and Craniofacial and Digital Abnormalities

Elisa Cali,Mohnish Suri,Marcello Scala,Matteo P. Ferla,Shahryar Alavi,Eissa Ali Faqeih,Emilia K. Bijlsma,Kristen M. Wigby,Diana Baralle,Mohammad Y. Mehrjardi,Jennifer Schwab,Konrad Platzer,Katharina Steindl,Mais Hashem,Marilyn Jones,Dmitriy M. Niyazov,Jennifer Jacober,Rebecca Okashah Littlejohn,Denisa Weis,Neda Zadeh,Lance Rodan,Alice Goldenberg,Francois Lecoquierre,Marina Dutra-Clarke,Gabriella Horvath, Dana Young,Naama Orenstein, Shahad Bawazeer,Anneke T. Vulto-van Silfhout,Yvan Herenger,Mohammadreza Dehghani,Seyed Mohammad Seyedhassani,Amir Bahreini, Mahya E. Nasab,A. Gulhan Ercan-Sencicek,Zahra Firoozfar,Mojtaba Movahedinia,Stephanie Efthymiou,Pasquale Striano,Ehsan Ghayoor Karimiani,Vincenzo Salpietro,Jenny C. Taylor,Melody Redman,Alexander P. A. Stegmann,Andreas Laner,Ghada Abdel-Salam,Megan Li,Mario Bengala, Amelie Johanna Muller,Maria C. Digilio,Anita Rauch,Murat Gunel,Hannah Titheradge,Daniela N. Schweitzer,Alison Kraus,Irene Valenzuela,Scott D. McLean,Chanika Phornphutkul,Mustafa Salih,Amber Begtrup,Rhonda E. Schnur,Erin Torti,Tobias B. Haack, Carlos E. Prada,Fowzan S. Alkuraya,Henry Houlden,Reza Maroofian

GENETICS IN MEDICINE（2023）

引用 3|浏览97
关键词
Chromatinopathy,Mendelian disorders of the epigenetic machinery,PRMT7,Syndromic neurodevelopmental disorder,Syndromic obesity
AI 理解论文
溯源树
样例
生成溯源树，研究论文发展脉络
Chat Paper
正在生成论文摘要