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Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.
Jaeckle Santos LJ, Xing C, Barnes RB, Ades LC, Megarbane A, Vidal C, Xuereb A, Tarpey PS, Smith R, Khazab M, Shoubridge C, Partington M, Futreal A, Stratton MR, Gecz J, Zinn AR. Jaeckle Santos LJ, et al. Hum Genet. 2008 Jun;123(5):469-76. doi: 10.1007/s00439-008-0498-4. Epub 2008 Apr 11. Hum Genet. 2008. PMID: 18404279 Free PMC article.
X-linked reticulate pigmentary disorder with systemic manifestations in males (PDR) is very rare. ...All annotated coding exons within this interval were sequenced in one affected male from each of the three multiplex families as well as one sin
X-linked reticulate pigmentary disorder with systemic manifestations in males (PDR) is very rare. ...All
Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis.
Gedeon AK, Mulley JC, Kozman H, Donnelly A, Partington MW. Gedeon AK, et al. Am J Med Genet. 1994 Aug 1;52(1):75-8. doi: 10.1002/ajmg.1320520115. Am J Med Genet. 1994. PMID: 7977467
X-linked reticulate pigmentary disorder (PDR), previously reported as X-linked cutaneous amyloidosis (MIM#301220), is characterized by brown pigmentation of the skin which follows the lines of Blaschko in females but
X-linked reticulate pigmentary disorder (PDR), previously reported as X-linked cutaneous
[Familial cutaneous amyloidosis].
Roux ME, Grateau G. Roux ME, et al. Ann Dermatol Venereol. 1993;120(2):151-6. Ann Dermatol Venereol. 1993. PMID: 8363309 Review. French.
The most homogeneous group is the one where cutaneous amyloidosis is clinically isolated and of the lichenoid type. ...In the second group of diseases the lesions of amyloidosis are associated with other genodermatoses and with two other familial diseases: …
The most homogeneous group is the one where cutaneous amyloidosis is clinically isolated and of the lichenoid type. ...In the …
X-linked cutaneous amyloidosis: further clinical and pathological observations.
Partington MW, Prentice RS. Partington MW, et al. Am J Med Genet. 1989 Jan;32(1):115-9. doi: 10.1002/ajmg.1320320125. Am J Med Genet. 1989. PMID: 2705473
A 10-year follow-up of a family with X-linked cutaneous amyloidosis confirmed no more than streaks or spots of brown pigmentation of the skin in females but much more varied and severe manifestations in males. ...The pattern of inheritance is X- …
A 10-year follow-up of a family with X-linked cutaneous amyloidosis confirmed no more than streaks or spots of b …
Familial cutaneous amyloidosis with systemic manifestations in males.
Partington MW, Marriott PJ, Prentice RS, Cavaglia A, Simpson NE. Partington MW, et al. Am J Med Genet. 1981;10(1):65-75. doi: 10.1002/ajmg.1320100109. Am J Med Genet. 1981. PMID: 6794369
In the females, the type and distribution of the pigmentation mimicked incontinentia pigmenti; in the males, the pattern was reticulate. The histological appearance was the same in both sexes with amyloid deposits in the papillary dermis, melanin in the basal layer, …
In the females, the type and distribution of the pigmentation mimicked incontinentia pigmenti; in the males, the pattern was reticulate