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Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants
BACKGROUND: CHARGE syndrome is characterized by coloboma, heart defects, choanal atresia, growth retardation, genitourinary malformation and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene is the major cause of CHARGE syndrome and is inherited in an autosomal dominant...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543684/ https://www.ncbi.nlm.nih.gov/pubmed/31146700 http://dx.doi.org/10.1186/s12881-019-0813-z |