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Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hum Mutat. 2020 Jan;41(1):150-168. doi: 10.1002/humu.23902. Epub 2019 Nov 14.
Hum Mutat. 2020.
PMID: 31448840
Free PMC article.
A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI).
Hobson GM, Gibson CW, Aragon M, Yuan ZA, Davis-Williams A, Banser L, Kirkham J, Brook AH.
Hobson GM, et al. Among authors: davis williams a.
Am J Med Genet A. 2009 Aug;149A(8):1698-705. doi: 10.1002/ajmg.a.32968.
Am J Med Genet A. 2009.
PMID: 19610109
Free PMC article.
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Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.
Wolf NI, Sistermans EA, Cundall M, Hobson GM, Davis-Williams AP, Palmer R, Stubbs P, Davies S, Endziniene M, Wu Y, Chong WK, Malcolm S, Surtees R, Garbern JY, Woodward KJ.
Wolf NI, et al. Among authors: davis williams ap.
Brain. 2005 Apr;128(Pt 4):743-51. doi: 10.1093/brain/awh409. Epub 2005 Feb 2.
Brain. 2005.
PMID: 15689360
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Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.
Fattal-Valevski A, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EH, Pastores GM.
Fattal-Valevski A, et al. Among authors: davis williams a.
J Child Neurol. 2009 May;24(5):618-24. doi: 10.1177/0883073808327833. Epub 2009 Jan 16.
J Child Neurol. 2009.
PMID: 19151366
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