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Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.
We report four sibs with Kenny-Caffey syndrome in a consanguineous Bedouin family. The first two died in the neonatal period while the remaining affected brother and sister had all the characteristic clinical, biochemical, and radiological abnormalities of the syndrome. These included severe pre- an...
Sparad:
| Huvudupphovsmän: | , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
1998
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1051183/ https://ncbi.nlm.nih.gov/pubmed/9475091 |
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