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Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H. McGrath JA, et al. Among authors: orlow sj. Hum Mol Genet. 2001 Feb 1;10(3):221-9. doi: 10.1093/hmg/10.3.221. Hum Mol Genet. 2001. PMID: 11159940
OA1 mutations and deletions in X-linked ocular albinism.
Schnur RE, Gao M, Wick PA, Keller M, Benke PJ, Edwards MJ, Grix AW, Hockey A, Jung JH, Kidd KK, Kistenmacher M, Levin AV, Lewis RA, Musarella MA, Nowakowski RW, Orlow SJ, Pagon RS, Pillers DA, Punnett HH, Quinn GE, Tezcan K, Wagstaff J, Weleber RG. Schnur RE, et al. Among authors: orlow sj. Am J Hum Genet. 1998 Apr;62(4):800-9. doi: 10.1086/301776. Am J Hum Genet. 1998. PMID: 9529334 Free PMC article.
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).
Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM. Zonana J, et al. Among authors: orlow sj. Am J Hum Genet. 2000 Dec;67(6):1555-62. doi: 10.1086/316914. Epub 2000 Oct 24. Am J Hum Genet. 2000. PMID: 11047757 Free PMC article.
Segmental stiff skin syndrome (SSS): A distinct clinical entity.
Myers KL, Mir A, Schaffer JV, Meehan SA, Orlow SJ, Brinster NK. Myers KL, et al. Among authors: orlow sj. J Am Acad Dermatol. 2016 Jul;75(1):163-8. doi: 10.1016/j.jaad.2016.01.038. Epub 2016 Mar 2. J Am Acad Dermatol. 2016. PMID: 26944597 Review.
217 results