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Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
journal article from 'European Journal of Medical Genetics' published in 2018
Author/s
author: Annick Toutain, Pauline Bogaard, Yoann Vial, Alain Verloes, Elaine Zackai, Séverine Drunat, Hakon Hakonarson, Damien Haye
Work details
Publication date
November 22, 2018
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Language
English
Copyright status
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