Total: 1 |
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PMID (PMCID) | ||
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23633410 |
FEMALE | Infant, Newborn |
Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature. | ||
la Cour Sibbesen E, Jespersgaard C, Alosi D, Bisgaard AM, Tumer Z. Am J Med Genet A. 2013;161A(6):1447-52. |
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The patient has the features of both the Kleefstra syndrome and the chromosome 9p-syndrome, including trigonocephaly, long philtrum, hypertelorism, and retro-/micronagthia. |