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

dc.contributor.author	Müller, Amelie Johanna
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2023-10-10T08:50:57Z
dc.date.available	2023-10-10T08:50:57Z
dc.date.issued	2023
dc.identifier.issn	1098-3600
dc.identifier.uri	http://hdl.handle.net/10900/146102
dc.language.iso	en	de_DE
dc.publisher	Elsevier Science Inc	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.gim.2022.09.016	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities	de_DE
dc.type	Article	de_DE
utue.quellen.id	20230619000000_01666
utue.publikation.seiten	135-142	de_DE
utue.personen.roh	Cali, Elisa
utue.personen.roh	Suri, Mohnish
utue.personen.roh	Scala, Marcello
utue.personen.roh	Ferla, Matteo P.
utue.personen.roh	Alavi, Shahryar
utue.personen.roh	Faqeih, Eissa Ali
utue.personen.roh	Bijlsma, Emilia K.
utue.personen.roh	Wigby, Kristen M.
utue.personen.roh	Baralle, Diana
utue.personen.roh	Mehrjardi, Mohammad Y., V
utue.personen.roh	Schwab, Jennifer
utue.personen.roh	Platzer, Konrad
utue.personen.roh	Steindl, Katharina
utue.personen.roh	Hashem, Mais
utue.personen.roh	Jones, Marilyn
utue.personen.roh	Niyazov, Dmitriy M.
utue.personen.roh	Jacober, Jennifer
utue.personen.roh	Littlejohn, Rebecca Okashah
utue.personen.roh	Weis, Denisa
utue.personen.roh	Zadeh, Neda
utue.personen.roh	Rodan, Lance
utue.personen.roh	Goldenberg, Alice
utue.personen.roh	Lecoquierre, Francois
utue.personen.roh	Dutra-Clarke, Marina
utue.personen.roh	Horvath, Gabriella
utue.personen.roh	Young, Dana
utue.personen.roh	Orenstein, Naama
utue.personen.roh	Bawazeer, Shahad
utue.personen.roh	Vulto-van Silfhout, Anneke T.
utue.personen.roh	Herenger, Yvan
utue.personen.roh	Dehghani, Mohammadreza
utue.personen.roh	Seyedhassani, Seyed Mohammad
utue.personen.roh	Bahreini, Amir
utue.personen.roh	Nasab, Mahya E.
utue.personen.roh	Ercan-Sencicek, A. Gulhan
utue.personen.roh	Firoozfar, Zahra
utue.personen.roh	Movahedinia, Mojtaba
utue.personen.roh	Efthymiou, Stephanie
utue.personen.roh	Striano, Pasquale
utue.personen.roh	Karimiani, Ehsan Ghayoor
utue.personen.roh	Salpietro, Vincenzo
utue.personen.roh	Taylor, Jenny C.
utue.personen.roh	Redman, Melody
utue.personen.roh	Stegmann, Alexander P. A.
utue.personen.roh	Laner, Andreas
utue.personen.roh	Abdel-Salam, Ghada
utue.personen.roh	Li, Megan
utue.personen.roh	Bengala, Mario
utue.personen.roh	Muller, Amelie Johanna
utue.personen.roh	Digilio, Maria C.
utue.personen.roh	Rauch, Anita
utue.personen.roh	Gunel, Murat
utue.personen.roh	Titheradge, Hannah
utue.personen.roh	Schweitzer, Daniela N.
utue.personen.roh	Kraus, Alison
utue.personen.roh	Valenzuela, Irene
utue.personen.roh	McLean, Scott D.
utue.personen.roh	Phornphutkul, Chanika
utue.personen.roh	Salih, Mustafa
utue.personen.roh	Begtrup, Amber
utue.personen.roh	Schnur, Rhonda E.
utue.personen.roh	Torti, Erin
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Prada, Carlos E.
utue.personen.roh	Alkuraya, Fowzan S.
utue.personen.roh	Houlden, Henry
utue.personen.roh	Maroofian, Reza
dcterms.isPartOf.ZSTitelID	Genetics in Medicine	de_DE
dcterms.isPartOf.ZS-Issue	1	de_DE
dcterms.isPartOf.ZS-Volume	25	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE
utue.fakultaet	07 Mathematisch-Naturwissenschaftliche Fakultät	de_DE