Determination of the ‘critical region’ for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR

@article{Wu2005DeterminationOT,
  title={Determination of the ‘critical region’ for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR},
  author={Qingfa Wu and Erik Niebuhr and Huanming Yang and Lars Juul Hansen},
  journal={European Journal of Human Genetics},
  year={2005},
  volume={13},
  pages={475-485}
}
Cri-du-chat (CDC, OMIM 123450) is a chromosomal syndrome that results from partial deletions on the short arm of chromosome 5. The clinical features of CDC normally include high-pitched cat-like cry, mental retardation, microcephaly, hypertelorism and epicanthic folds. The cat-like cry is the most prominent clinical characteristic in newborn children and is usually considered as diagnostic for the CDC syndrome. Using a strategy of ‘phenotype dissection’, the critical region for cat-like cry was… CONTINUE READING

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