Výsledky vyhledávání - "Sofía Catena"

Akademický článek

P276: Monozygotic diamniotic twins homozygous for FAM20C missense variant causing lethal Raine syndrome

Autor: Sofia Catena, Joanna Gonzalez, Krisna Maddy, Matthew Rodier, Nicholas Borja

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101172- (2024)

Externí odkaz: https://doaj.org/article/4a5de50ef5dc4c6ebb2d9d5102d7ff06

Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review

Autor: Karena Espinoza, Oscar Pizarro, Mariana Aracena, Guillermo Lay-Son, Sofía Catena

Publikováno v: Molecular syndromology. 9(1)

Proximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients have deletions of different sizes but share partial overlap and present with similar clinical features, and some of them were described prior to the introduction

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f78bdeee0f883c6ddcad6f3dbf9cf6c7
https://pubmed.ncbi.nlm.nih.gov/29456478

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