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

A. Verloes, D. Haye, A. Toutain, D. Bonneau, I. Kibaek Nielsen, I. Bay Lund, P. Bogaard, S. Leenskjold, K. Karaer, K. T. Wild, K. L. Grand, M. C. Astiazaran, L. A. Gonzalez-Nieto, A. Carvalho, D. Lehalle, S. M. Amudhavalli, E. Repnikova, C. Saunders, I. Thiffault, I. ThiffaultI. Saadi, D. Li, H. Hakonarson, Y. Vial, E. Zackai, P. Callier, S. Drunat, E. E. Bhoj

Research output: Contribution to journalConference abstract in journalResearchpeer-review

Original languageEnglish
JournalEuropean Journal of Human Genetics
Volume27
Issue numberSuppl. 2
Pages (from-to)1517-1518
Number of pages2
ISSN1018-4813
Publication statusPublished - Oct 2019
Event52th Conference of the European Society of Human Genetics (ESHG) - Göteborg, Sweden
Duration: 15 Jun 201918 Jun 2019
Conference number: 52
https://2019.eshg.org/

Conference

Conference52th Conference of the European Society of Human Genetics (ESHG)
Number52
Country/TerritorySweden
CityGöteborg
Period15/06/201918/06/2019
Internet address

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