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Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature
BACKGROUND: Terminal deletions of chromosome 4q are associated with a broad spectrum of phenotypes including cardiac, craniofacial, digital, and cognitive impairment. The rarity of this syndrome renders genotype-phenotype correlation difficult, which is further complicated by the widely different ph...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077152/ https://www.ncbi.nlm.nih.gov/pubmed/24962056 http://dx.doi.org/10.1186/1471-2350-15-72 |