Variants in CFAP410 cause a range of retinal and skeletal phenotypes

Schmidt, Ryan E.; Pohodich, Amy E.; Birch, David; Jones, Kaylie; Lam, Byron L.; Jung, Emily H.; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A.; Webster, Andrew R.; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C.; Heon, Elise; Scholl, Hendrik P. N.; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I.; Zein, Wadih; Brooks, Brian P.; Cukras, Catherine; Hufnagel, Robert; Aleman, Tomas S.; Sylla, Mohamed M.; Tsang, Stephen H.; Alabek, Michelle; Sahel, Jose; Gorin, Michael B.; van Genderen, Maria M.; Stingl, Katarina; Reith, Milda; Kohl, Susanne; Amaral, Rebeca Azevedo Souza; Sallum, Juliana Maria Ferraz; Vincent, Andrea L.; Hull, Sarah; Duncan, Jacque L.; Hanson, James V. M.; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; Marra, Molly; Everett, Lesley A.; Yang, Paul; Pennesi, Mark E.

dc.contributor.author	Stingl, Katarina
dc.contributor.author	Reith, Milda
dc.contributor.author	Kohl, Susanne
dc.date.accessioned	2025-09-30T06:34:41Z
dc.date.available	2025-09-30T06:34:41Z
dc.date.issued	2025
dc.identifier.issn	2056-7944
dc.identifier.uri	http://hdl.handle.net/10900/170392
dc.language.iso	en	de_DE
dc.publisher	Berlin : Nature Portfolio	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/s41525-025-00489-1	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Variants in CFAP410 cause a range of retinal and skeletal phenotypes	de_DE
dc.type	Article	de_DE
utue.quellen.id	20250630000000_00869
utue.personen.roh	Schmidt, Ryan E.
utue.personen.roh	Pohodich, Amy E.
utue.personen.roh	Birch, David
utue.personen.roh	Jones, Kaylie
utue.personen.roh	Lam, Byron L.
utue.personen.roh	Jung, Emily H.
utue.personen.roh	Jain, Nieraj
utue.personen.roh	Georgiou, Michalis
utue.personen.roh	Mahroo, Omar A.
utue.personen.roh	Webster, Andrew R.
utue.personen.roh	Michaelides, Michel
utue.personen.roh	Bakall, Benjamin
utue.personen.roh	Iannaccone, Alessandro
utue.personen.roh	Vincent, Ajoy
utue.personen.roh	Parameswarappa, Deepika C.
utue.personen.roh	Heon, Elise
utue.personen.roh	Scholl, Hendrik P. N.
utue.personen.roh	Janeschitz-Kriegl, Lucas
utue.personen.roh	Traboulsi, Elias I.
utue.personen.roh	Zein, Wadih
utue.personen.roh	Brooks, Brian P.
utue.personen.roh	Cukras, Catherine
utue.personen.roh	Hufnagel, Robert
utue.personen.roh	Aleman, Tomas S.
utue.personen.roh	Sylla, Mohamed M.
utue.personen.roh	Tsang, Stephen H.
utue.personen.roh	Alabek, Michelle
utue.personen.roh	Sahel, Jose
utue.personen.roh	Gorin, Michael B.
utue.personen.roh	van Genderen, Maria M.
utue.personen.roh	Stingl, Katarina
utue.personen.roh	Reith, Milda
utue.personen.roh	Kohl, Susanne
utue.personen.roh	Amaral, Rebeca Azevedo Souza
utue.personen.roh	Sallum, Juliana Maria Ferraz
utue.personen.roh	Vincent, Andrea L.
utue.personen.roh	Hull, Sarah
utue.personen.roh	Duncan, Jacque L.
utue.personen.roh	Hanson, James V. M.
utue.personen.roh	Tedeus, Matthias
utue.personen.roh	Maggi, Jordi
utue.personen.roh	Graf, Urs
utue.personen.roh	Koller, Samuel
utue.personen.roh	Berger, Wolfgang
utue.personen.roh	Gerth-Kahlert, Christina
utue.personen.roh	Marra, Molly
utue.personen.roh	Everett, Lesley A.
utue.personen.roh	Yang, Paul
utue.personen.roh	Pennesi, Mark E.
dcterms.isPartOf.ZSTitelID	Npj Genomic Medicine	de_DE
dcterms.isPartOf.ZS-Issue	Article 32	de_DE
dcterms.isPartOf.ZS-Volume	10 (1)	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE