Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities-Reference-Cited by-同舟云学术

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Published:2023-01 Issue:1 Volume:25 Page:135-142
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference22 articles.

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2. Cellular consequences of arginine methylation;Lorton;Cell Mol Life Sci,2019

3. Structure and function of protein arginine methyltransferase PRMT7;Halabelian;Life (Basel),2021

4. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families;Akawi;Nat Genet,2015

5. Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review;Agolini;Clin Genet,2018

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