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 <i>HRAS</i> 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,...

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Principais autores:	Yu-Min Syu, Hung-Chang Lee, Jui-Hsing Chang, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
格式:	Artigo
语言:	Inglês
出版:	MDPI AG 2022-06-01
丛编:	Children
主题:	Costello syndrome RASopathy failure to thrive dysmorphism nutritional status
在线阅读:	https://www.mdpi.com/2227-9067/9/6/905
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