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2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis

Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patien...

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Detalhes bibliográficos
Publicado no:Ann Pediatr Endocrinol Metab
Main Authors: Cho, Eun-Kyung, Kim, Jinsup, Yang, Aram, Cho, Sung Yoon, Jin, Dong-Kyu
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society of Pediatric Endocrinology 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5495980/
https://ncbi.nlm.nih.gov/pubmed/28690993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2017.22.2.129
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