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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.
Bhoj EJ, Haye D, Toutain A, Bonneau D, Nielsen IK, Lund IB, Bogaard P, Leenskjold S, Karaer K, Wild KT, Grand KL, Astiazaran MC, Gonzalez-Nieto LA, Carvalho A, Lehalle D, Amudhavalli SM, Repnikova E, Saunders C, Thiffault I, Saadi I, Li D, Hakonarson H, Vial Y, Zackai E, Callier P, Drunat S, Verloes A. Bhoj EJ, et al. Among authors: astiazaran mc. Eur J Med Genet. 2019 Dec;62(12):103588. doi: 10.1016/j.ejmg.2018.11.022. Epub 2018 Nov 22. Eur J Med Genet. 2019. PMID: 30472488 Free PMC article.
Silver-Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient.
Paz-Ramírez M, Muñoz-Martínez LB, Morales-Jiménez AB, Morán-Barroso VF, García-Delgado C, Azotla-Vilchis CN, Márquez-Quiroz LC, Astiazarán MC. Paz-Ramírez M, et al. Among authors: astiazaran mc. Clin Dysmorphol. 2022 Apr 1;31(2):94-97. doi: 10.1097/MCD.0000000000000402. Clin Dysmorphol. 2022. PMID: 34750319 No abstract available.