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Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype

Recently five patients with an Albright hereditary osteodystrophy (AHO)-like phenotype were reported to have a subtelomeric deletion of the long arm of chromosome 2. These patients showed a striking resemblance to a number of patients from a large pedigree known to us for a long time. After molecula...

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Hlavní autoři: Bijlsma, E, Aalfs, C, Sluijter, S, Luttikhuis, M, Trembath, R, Hoovers, J, Hennekam, R
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 1999
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1762967/
https://ncbi.nlm.nih.gov/pubmed/10465110
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