DELINEATION OF THE PHENOTYPE ASSOCIATED WITH DPH1 BIALLELIC VARIANTS (LOUCKS-INNES SYNDROME): A CANDIDATE CILIOPATHY

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TitreDELINEATION OF THE PHENOTYPE ASSOCIATED WITH DPH1 BIALLELIC VARIANTS (LOUCKS-INNES SYNDROME): A CANDIDATE CILIOPATHY
Type de publicationJournal Article
Year of Publication2020
AuteursInnes A.M, Loucks C.M, Goh E., Hoffman T., Gal M., Raas-Rothschild A., Wigby K., del Campo M., Maroofian R., Jamshidi Y., Lefebvre M., Tauvin C., Alsayed M., Shaheen R., Alkuraya F.
JournalAMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume182
Pagination883-884
Date PublishedAPR
Type of ArticleMeeting Abstract
ISSN1552-4825