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18p Deletion Syndrome Originating from Rare Unbalanced Whole-Arm Translocation between Chromosomes 13 and 18: A Case Report and Literature Review

18p deletion (18p-) syndrome is a rare chromosome abnormality that has a wide range of phenotypes, with short stature, intellectual disability, and facial dysmorphism being the main clinical features. Here, we report the first case in Korea of a 16-year-old male adolescent with 18p- syndrome resulti...

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Detalhes bibliográficos
Principais autores: Ji Young Choi, Ja Un Moon, Da Hye Yoon, Jisook Yim, Myungshin Kim, Min Ho Jung
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2022-07-01
coleção:Children
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Acesso em linha:https://www.mdpi.com/2227-9067/9/7/987
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