Authors:
McGrath, JA
Duijf, PHG
Doetsch, V
Irvine, AD
de Waal, R
Vanmolkot, KRJ
Wessagowit, V
Kelly, A
Atherton, DJ
Griffiths, WAD
Orlow, SJ
van Haeringen, A
Ausems, MGEM
Yang, A
McKeon, F
Bamshad, MA
Brunner, HG
Hamel, BCJ
van Bokhoven, H
Citation: Ja. Mcgrath et al., Hay-Wells syndrome is caused by heterozygous missense mutations in the SAMdomain of p63, HUM MOL GEN, 10(3), 2001, pp. 221-229
Citation: Nv. Whittock et al., New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens, BR J DERM, 145(2), 2001, pp. 330-335
Authors:
Hill, VA
Griffiths, WAD
Kerr-Muir, MG
Hardman-Lea, S
Citation: Va. Hill et al., Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome, CLIN EXP D, 25(8), 2000, pp. 611-614
Authors:
Mellerio, JE
Ashton, GHS
Mohammedi, R
Lyon, CC
Kirby, B
Harman, KE
Salas-Alanis, JC
Atherton, DJ
Harrison, PV
Griffiths, WAD
Black, MM
Eady, RAJ
McGrath, JA
Citation: Je. Mellerio et al., Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa, J INVES DER, 112(6), 1999, pp. 984-987