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Two retarded male cousins with odd facies, hypotonia, and severe constipation: possible examples of the X linked FG syndrome

A boy was referred in 1977 for investigation of global retardation and hypotonia. Minor dysmorphic features and intractable constipation were noted. In 1981 the mother's sister had a son with a similar phenotype. This is probably the X linked Opitz-Kaveggia or FG syndrome.

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Dettagli Bibliografici
Autori principali: Burn, J, Martin, N
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1983
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049007/
https://ncbi.nlm.nih.gov/pubmed/6682449
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