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A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea
The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion bord...
Autores principales: | Cho, Joo Hyun, Song, Eun Song, Kim, Hee Na, Oh, Burm Seok, Choi, Young Youn |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Pediatric Society
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115071/ https://www.ncbi.nlm.nih.gov/pubmed/25076975 http://dx.doi.org/10.3345/kjp.2014.57.6.292 |
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