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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...

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Detalles Bibliográficos
Autores principales: Cho, Joo Hyun, Song, Eun Song, Kim, Hee Na, Oh, Burm Seok, Choi, Young Youn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2014
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