Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions
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Published:2023-09
Issue:
Volume:
Page:101111
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ISSN:2352-3042
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Container-title:Genes & Diseases
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language:en
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Short-container-title:Genes & Diseases
Author:
Deutsch KonstantinORCID,
Klämbt Verena,
Kitzler Thomas M.,
Jobst-Schwan Tilman,
Schneider Ronen,
Buerger Florian,
Seltzsam SteveORCID,
El Desoky Sherif,
Kari Jameela A.ORCID,
Hafeez Farkhanda,
Szczepańska MariaORCID,
Eid Loai A.,
Awad Hazem S.,
Al-Saffar Muna,
Soliman Neveen A.ORCID,
Tasic Velibor,
Nicolas-Frank Camille,
Yousef Kirollos,
Schierbaum Luca M.,
Schneider SophiaORCID,
Halawi Abdul,
Elmubarak IzzeldinORCID,
Lemberg KatharinaORCID,
Shril Shirlee,
Mane Shrikant M.,
Rodig Nancy,
Hildebrandt Friedhelm
Funder
Boston Children's Hospital
Subject
Cell Biology,Genetics (clinical),Molecular Biology,Biochemistry