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American Journal of Human Genetics|November 15, 2000
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)J Zonana, M E Elder, L C Schneider, et al.
Human Heredity|February 15, 2001
Additional glomangioma families link to chromosome 1p: no evidence for genetic heterogeneityJ T Calvert, S Burns, T J Riney, et al.
Human Molecular Genetics|February 13, 2001
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63J A McGrath, P H Duijf, V Doetsch, et al.
American Journal of Human Genetics|June 13, 1998
OA1 mutations and deletions in X-linked ocular albinismR E Schnur, M Gao, P A Wick, et al.
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