Concepedia

Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype

Birgit Zirn, Maja Hempel, Andreas Hahn, Bernd A. Neubauer, Janine Wagenstaller, Núria Rivera‐Bruguès, Tim M. Strom, Angelika Köhler

American Journal of Medical Genetics Part A · 2008 · 11 citations · 8 references

DOI

Concepts

References

8

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

Darryl Nishimura, Ruth E. Swiderski, Wallace L.M. Alward et al. · Nature Genetics · 1998 · 472 citations

, , +10

AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice

Timothy Nottoli, Stephanie Hagopian-Donaldson, Jian Zhang et al. · Proceedings of the National Academy of Sciences · 1998 · 181 citations

, , +17

Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation

Janine Wagenstaller, Stephanie Spranger, Bettina Lorenz‐Depiereux et al. · The American Journal of Human Genetics · 2007 · 131 citations · Full text

, , +16

Delineation of two distinct 6p deletion syndromes

Angela Davies, Ghazala Mirza, Gurbax S. Sekhon et al. · Human Genetics · 1999 · 113 citations

, , +14

Refined genotype–phenotype correlations in cases of chromosome 6p deletion syndromes

Ghazala Mirza, Ruth Williams, Shela Mohammed et al. · European Journal of Human Genetics · 2004 · 66 citations

, , +16