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Human Genetics|January 1, 1992
Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomesK Stephens, L Kayes, V M Riccardi, et al.
American Journal of Human Genetics|March 1, 1995
Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton functionK Stephens, A Zlotogorski, L Smith, et al.
The Journal of Investigative Dermatology|June 16, 2001
Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patientsR J Livingston, V P Sybert, L T Smith, et al.
Current Opinion in Pediatrics|December 6, 2000
Genetics of Hirschsprung diseaseM A Parisi, R P Kapur
Science (New York, N.Y.)|May 17, 1991
Similarity of human mitochondrial transcription factor 1 to high mobility group proteinsM A Parisi, D A Clayton
American Journal of Human Genetics|March 3, 1999
Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1V P Sybert, J S Francis, L D Corden, et al.
The Journal of Investigative Dermatology|September 1, 1996
Defective integrin alpha 6 beta 4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresiaT A Brown, S G Gil, V P Sybert, et al.
Pediatric Dermatology|March 13, 1998
Lymphedema as a postulated cause of cutis verticis gyrata in Turner syndromeM Larralde, S S Gardner, M V Torrado, et al.
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