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Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome

Costello syndrome (CS) is a type of RASopathy caused mainly by de-novo heterozygous pathogenic variants in the HRAS gene located on chromosome 11p15.5. The phenotype of CS is characterized by prenatal overgrowth, postnatal failure to thrive, curly or sparse fine hair, coarse facial features, and mul...

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Detalles Bibliográficos
Autores principales: Syu, Yu-Min, Lee, Hung-Chang, Chang, Jui-Hsing, Lee, Chung-Lin, Chuang, Chih-Kuang, Chiu, Huei-Ching, Chang, Ya-Hui, Lin, Hsiang-Yu, Lin, Shuan-Pei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9221830/
https://www.ncbi.nlm.nih.gov/pubmed/35740842
http://dx.doi.org/10.3390/children9060905