Brachydactyly and Mental Retardation: An Albright Hereditary Osteodystrophy–like Syndrome Localized to 2q37

We report five patients with a combination of brachymetaphalangia and mental retardation, similar to that observed in Albright hereditary osteodystrophy (AHO). Four patients had cytogenetically visible de novo deletions of chromosome 2q37. The fifth patient was cytogenetically normal and had normal...

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Autori principali: Wilson, L. C., Leverton, K., Luttikhuis, M. E. M. Oude, Oley, C. A., Flint, J., Wolstenholme, J., Duckett, D. P., Barrow, M. A., Leonard, J. V., Read, A. P., Trembath, R. C.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1995
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801124/
https://ncbi.nlm.nih.gov/pubmed/7847374
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