p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation
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- 1 September 2001
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 69 (3), 481-492
- https://doi.org/10.1086/323123
Abstract
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This publication has 46 references indexed in Scilit:
- Split-hand/split-foot malformation with paternal mutation in the p63 genePrenatal Diagnosis, 2001
- Syndromic Ectrodactyly with Severe Limb, Ectodermal, Urogenital, and Palatal Defects Maps to Chromosome 19American Journal of Human Genetics, 1998
- Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25.Journal of Medical Genetics, 1996
- Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb developmentHuman Molecular Genetics, 1996
- Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactylyHuman Molecular Genetics, 1994
- Slow Repair of Pyrimidine Dimers at p53 Mutation Hotspots in Skin CancerScience, 1994
- Congenital abnormalities associated with limb deficiency defects: A population study based on cases from the Hungarian congenital malformation registry (1975–1984)American Journal of Medical Genetics, 1994
- 5-Methylcytosine as an Endogenous Mutagen in the Human LDL Receptor and p53 GenesScience, 1990
- Molecular basis of base substitution hotspots in Escherichia coliNature, 1978
- The lacrimo-auriculo-dento-digital syndromeThe Journal of Pediatrics, 1973