Br J Dermatol. 2012 Apr;166(4):905-7. doi: 10.1111/j.1365-2133.2011.10685.x. Epub 2012 Feb 6.

Clinically manifest X-linked recessive ichthyosis in a female due to a homozygous interstitial 1·6-Mb deletion of Xp22.31.

Nagtzaam IF, Stegmann AP, Steijlen PM, Herbergs J, Van Lent-Albrechts JA, Van Geel M, Van Steensel MA.

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Departments of Dermatology and Clinical Genetics and GROW School for Oncology and Developmental Biology Maastricht University Medical Centre 6202 AZ, Maastricht the Netherlands.

PMID:: 21985695; [PubMed - in process]

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A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval. [Hum Genet. 1994]
A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval.
Klink A, Meindl A, Hellebrand H, Rappold GA. Hum Genet. 1994 Apr; 93(4):463-6.
Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy. [J Med Genet. 2000]
Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy.
Gohlke BC, Haug K, Fukami M, Friedl W, Noeker M, Rappold GA, Haverkamp F. J Med Genet. 2000 Aug; 37(8):600-2.
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. [Eur J Med Genet. 2007]
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.
Lonardo F, Parenti G, Luquetti DV, Annunziata I, Della Monica M, Perone L, De Gregori M, Zuffardi O, Brunetti-Pierri N, Andria G, et al. Eur J Med Genet. 2007 Jul-Aug; 50(4):301-8. Epub 2007 May 21.
Review X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient. [Dermatology. 2010]
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Hernández-Martín A, Cuadrado-Corrales N, Ciria-Abad S, Arias-Palomo D, Mascaró-Galy JM, Escámez MJ, García M, Del Río M, Torrelo A, González-Sarmiento R. Dermatology. 2010; 221(2):113-6. Epub 2010 Jun 4.
Review [The genetics and molecular genetics of X-chromosomal recessive ichthyosis]. [Dermatol Monatsschr. 1989]
Review [The genetics and molecular genetics of X-chromosomal recessive ichthyosis].
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Clinically manifest X-linked recessive ichthyosis in a female due to a homozygou...
Clinically manifest X-linked recessive ichthyosis in a female due to a homozygous interstitial 1·6-Mb deletion of Xp22.31.
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Clinically manifest X-linked recessive ichthyosis in a female due to a homozygous interstitial 1·6-Mb deletion of Xp22.31.

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