Affiliation auteurs | !!!! Error affiliation !!!! |
Titre | Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes |
Type de publication | Journal Article |
Year of Publication | 2019 |
Auteurs | Verloes 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 |
Journal | EUROPEAN JOURNAL OF HUMAN GENETICS |
Volume | 27 |
Pagination | 1517-1518 |
Date Published | OCT |
Type of Article | Meeting Abstract |
ISSN | 1018-4813 |