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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書誌詳細
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: 1995
主題:
Original Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801124/
https://ncbi.nlm.nih.gov/pubmed/7847374
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