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

Cali, Elisa; 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, Francois; 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; Muller, 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

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

Autor(en):

Cali, Elisa; 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, Francois; 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; Muller, 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

Tübinger Autor(en):

Müller, Amelie Johanna
Haack, Tobias

Erschienen in:

Genetics in Medicine (2023), Bd. 25, H. 1, S. 135-142

Verlagsangabe:

Elsevier Science Inc

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1016/j.gim.2022.09.016

ISSN:

1098-3600