Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

Ziegler, Alban; Duclaux-Loras, Remi; Revenu, Celine; Charbit-Henrion, Fabienne; Begue, Bernadette; Duroure, Karine; Grimaud, Linda; Guihot, Anne Laure; Desquiret-Dumas, Valerie; Zarhrate, Mohammed; Cagnard, Nicolas; Mas, Emmanuel; Breton, Anne; Edouard, Thomas; Billon, Clarisse; Frank, Michael; Colin, Estelle; Lenaers, Guy; Henrion, Daniel; Lyonnet, Stanislas; Faivre, Laurence; Alembik, Yves; Philippe, Anais; Moulin, Bruno; Reinstein, Eyal; Tzur, Shay; Attali, Ruben; McGillivray, George; White, Susan M.; Gallacher, Lyndon; Kutsche, Kerstin; Schneeberger, Pauline; Girisha, Katta M.; Nayak, Shalini S.; Pais, Lynn; Maroofian, Reza; Rad, Aboulfazl; Vona, Barbara; Karimiani, Ehsan Ghayoor; Lekszas, Caroline; Haaf, Thomas; Martin, Ludovic; Ruemmele, Frank; Bonneau, Dominique; Cerf-Bensussan, Nadine; Del Bene, Filippo; Parlato, Marianna

dc.contributor.author	Rad, Aboulfazl
dc.contributor.author	Vona, Barbara
dc.date.accessioned	2021-11-09T12:33:59Z
dc.date.available	2021-11-09T12:33:59Z
dc.date.issued	2021
dc.identifier.issn	1537-6605
dc.identifier.uri	http://hdl.handle.net/10900/120594
dc.language.iso	en	de_DE
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2021.04.020	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation	de_DE
dc.type	Article	de_DE
utue.quellen.id	20210824232002_00796
utue.publikation.seiten	1126-1137	de_DE
utue.personen.roh	Ziegler, Alban
utue.personen.roh	Duclaux-Loras, Remi
utue.personen.roh	Revenu, Celine
utue.personen.roh	Charbit-Henrion, Fabienne
utue.personen.roh	Begue, Bernadette
utue.personen.roh	Duroure, Karine
utue.personen.roh	Grimaud, Linda
utue.personen.roh	Guihot, Anne Laure
utue.personen.roh	Desquiret-Dumas, Valerie
utue.personen.roh	Zarhrate, Mohammed
utue.personen.roh	Cagnard, Nicolas
utue.personen.roh	Mas, Emmanuel
utue.personen.roh	Breton, Anne
utue.personen.roh	Edouard, Thomas
utue.personen.roh	Billon, Clarisse
utue.personen.roh	Frank, Michael
utue.personen.roh	Colin, Estelle
utue.personen.roh	Lenaers, Guy
utue.personen.roh	Henrion, Daniel
utue.personen.roh	Lyonnet, Stanislas
utue.personen.roh	Faivre, Laurence
utue.personen.roh	Alembik, Yves
utue.personen.roh	Philippe, Anais
utue.personen.roh	Moulin, Bruno
utue.personen.roh	Reinstein, Eyal
utue.personen.roh	Tzur, Shay
utue.personen.roh	Attali, Ruben
utue.personen.roh	McGillivray, George
utue.personen.roh	White, Susan M.
utue.personen.roh	Gallacher, Lyndon
utue.personen.roh	Kutsche, Kerstin
utue.personen.roh	Schneeberger, Pauline
utue.personen.roh	Girisha, Katta M.
utue.personen.roh	Nayak, Shalini S.
utue.personen.roh	Pais, Lynn
utue.personen.roh	Maroofian, Reza
utue.personen.roh	Rad, Aboulfazl
utue.personen.roh	Vona, Barbara
utue.personen.roh	Karimiani, Ehsan Ghayoor
utue.personen.roh	Lekszas, Caroline
utue.personen.roh	Haaf, Thomas
utue.personen.roh	Martin, Ludovic
utue.personen.roh	Ruemmele, Frank
utue.personen.roh	Bonneau, Dominique
utue.personen.roh	Cerf-Bensussan, Nadine
utue.personen.roh	Del Bene, Filippo
utue.personen.roh	Parlato, Marianna
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	6	de_DE
dcterms.isPartOf.ZS-Volume	108	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE