Search Results - "Catena, Sofia"

P276: Monozygotic diamniotic twins homozygous for FAM20C missense variant causing lethal Raine syndrome by Catena, Sofia, Gonzalez, Joanna, Maddy, Krisna, Rodier, Matthew, Borja, Nicholas

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Silver-Russell syndrome-like features in a child with recombinant chromosome 11 derived from maternal pericentric inversion by Urzua, Abraham, Catena, Sofía, Morales, Paulina, Lay-Son, Guillermo

“…Silver-Russell syndrome (SRS) is a well-known syndrome but with heterogeneous etiologies. We present the case of a child with severe SRS-like features…”
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Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review by Catena, Sofía, Aracena, Mariana, Pizarro, Óscar, Espinoza, Karena, Lay-Son, Guillermo

“…Proximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients have deletions of different sizes but share partial overlap and present…”
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