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An Endocrinological approach to Cornelia de Lange Syndrome

Cornelia de Lange syndrome is a developmental disorder with a great degree of clinical and genetical variability characterized by typical facial features, growth impairment and multi-organ anomalies. It is caused by mutations in the cohesin complex that is involved in regulation of gene expression....

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Principais autores: Mirela Elena Iancu, Alice Ioana Albu, Raluca Maria Vlad, Dragos Nicolae Albu
Formato: Artigo
Idioma:Inglês
Publicado: Amaltea Medical Publishing House 2022-03-01
Series:Romanian Journal of Pediatrics
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Acceso en liña:https://rjp.com.ro/articles/2022.1/RJP_2022_1_Art-01.pdf
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