Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

We have evaluated a patient with Jacobsen syndrome. The patient presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus, central nervous system (CNS) abnormalities,...

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Detalhes bibliográficos
Main Authors: Pivnick, E K, Velagaleti, G V, Wilroy, R S, Smith, M E, Rose, S R, Tipton, R E, Tharapel, A T
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050734/
https://ncbi.nlm.nih.gov/pubmed/8880580
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