Phenotypic spectrum of SPECC1L mutations encompasses Teebi hypertelorism syndrome but not Opitz BBBG syndrome: report of new families and critical review of the literature

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TitrePhenotypic spectrum of SPECC1L mutations encompasses Teebi hypertelorism syndrome but not Opitz BBBG syndrome: report of new families and critical review of the literature
Type de publicationJournal Article
Year of Publication2018
AuteursVerloes A., Haye D., Toutain A., Bonneau D., Lehalle D., Caillier P., Drunat S., Lund I., Bhoj E., Bogaard P., Leenskjold S., Zackay E., Li D., Hakonarson H., Petersen M., Nielsen I.
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume26
Pagination501
Date PublishedOCT
Type of ArticleMeeting Abstract
ISSN1018-4813