Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

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TitrePhenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
Type de publicationJournal Article
Year of Publication2019
AuteursVerloes A., Haye D., Toutain A., Bonneau D., I. Nielsen K, I. Lund B, Bogaard P., Leenskjold S., Karaer K., Wild K.T, Grand K.L, Astiazaran M.C, Gonzalez-Nieto L.A, Carvalho A., Lehalle D., Amudhavalli S.M, Repnikova E., Saunders C., Thiffault I., Thiffault I., Saadi I., Li D., Hakonarson H., Vial Y., Zackai E., Callier P., Drunat S., Bhoj E.E
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume27
Pagination1517-1518
Date PublishedOCT
Type of ArticleMeeting Abstract
ISSN1018-4813