Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes-Reference-Cited by-同舟云学术

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

Published:2019-12 Issue:12 Volume:62 Page:103588
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Bhoj Elizabeth J.,Haye Damien,Toutain Annick^ORCID,Bonneau Dominique,Nielsen Irene Kibæk,Lund Ida Bay,Bogaard Pauline^ORCID,Leenskjold Stine,Karaer Kadri^ORCID,Wild Katherine T.^ORCID,Grand Katheryn L.^ORCID,Astiazaran Mirena C.^ORCID,Gonzalez-Nieto Luis A.,Carvalho Ana,Lehalle Daphné,Amudhavalli Shivarajan M.,Repnikova Elena,Saunders Carol,Thiffault Isabelle,Saadi Irfan^ORCID,Li Dong^ORCID,Hakonarson Hakon,Vial Yoann^ORCID,Zackai Elaine,Callier Patrick,Drunat Séverine,Verloes Alain^ORCID

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference39 articles.

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