Výsledky vyhledávání - "Stephanie C. Randle"

Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome

Autor: Tara L. Wenger, Stephanie C. Randle, Vivian Manh, Anne Hing, Penny Chow, Erin L. Albers, Darcy King, Craig B. Birgfeld, Joanna E Wrede, Anna Rosén, Patrick J. Javid

Publikováno v: American journal of medical genetics. Part A. 173(2)

Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee59da4daeeb676c3658d21bd32b0b95
https://pubmed.ncbi.nlm.nih.gov/28102598

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