Výsledky vyhledávání - "Leonardo F. Freitas"

Coffin–Siris Syndrome in a Patient with Hirschsprung's Disease—Expanding the Phenotype by Mutation ARID1B: Case Report and Literature Review

Autor: Leonardo F. Freitas, Lays S. Ribeiro, Márcio L. Duarte, Mayara O. da Silva, Paula M. Ferreira

Publikováno v: Journal of Pediatric Neurology.

Coffin–Siris syndrome (CSS) is a rare syndrome with autosomal dominant inheritance, and it is characterized by intellectual disability, hypotonia, aplasia/hypoplasia of the distal phalanx of fifth fingernail, feeding difficulties, growth restrictio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9a3213232a7d905ed769ce71595a29e3
https://doi.org/10.1055/s-0042-1756453

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