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Quoted phrase not found in phrase index: "Peeling skin syndrome 5"
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Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.
Geyer AS, Ratajczak P, Pol-Rodriguez M, Millar WS, Garzon M, Richard G. Geyer AS, et al. Dermatology. 2005;210(4):308-14. doi: 10.1159/000084755. Dermatology. 2005. PMID: 15942217
OBJECTIVE: Our objective was to investigate if the erythrodermic variant of peeling skin syndrome is also caused by SPINK5 mutations and to study the consequences of the disease on infantile brain development. ...RESULTS: We identified a homozygous 4-base-pai …
OBJECTIVE: Our objective was to investigate if the erythrodermic variant of peeling skin syndrome is also caused by SPI …
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.
Cassidy AJ, van Steensel MA, Steijlen PM, van Geel M, van der Velden J, Morley SM, Terrinoni A, Melino G, Candi E, McLean WH. Cassidy AJ, et al. Am J Hum Genet. 2005 Dec;77(6):909-17. doi: 10.1086/497707. Epub 2005 Oct 11. Am J Hum Genet. 2005. PMID: 16380904 Free PMC article.
Peeling skin syndrome is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. ...Two homozygous missense mutations, T109M and G113C, were found in TGM5, which encodes transglutaminase 5 (TG5), in all affected pers …
Peeling skin syndrome is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. .. …
The glycan-specific sulfotransferase (R77W)GalNAc-4-ST1 putatively responsible for peeling skin syndrome has normal properties consistent with a simple sequence polymorphisim.
Fiete D, Mi Y, Beranek M, Baenziger NL, Baenziger JU. Fiete D, et al. Glycobiology. 2017 May 1;27(5):450-456. doi: 10.1093/glycob/cwx018. Glycobiology. 2017. PMID: 28204496 Free PMC article.
A recent whole-exome sequencing study identifies (c.229 C > T) in the GalNAc-4-ST1 glycosyltransferase (CHST8) as a disease-causing missense R77W mutation yielding the genodermatosis peeling skin syndrome (PSS) when homozygous. Cabral et al. (Genomics. 201 …
A recent whole-exome sequencing study identifies (c.229 C > T) in the GalNAc-4-ST1 glycosyltransferase (CHST8) as a disease-causing misse …
A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.
Temel ŞG, Karakaş B, Şeker Ü, Turkgenç B, Zorlu Ö, Sarıcaoğlu H, Oğur Ç, Kütük Ö, Kelsell DP, Yakıcıer MC. Temel ŞG, et al. Cell Tissue Res. 2019 Nov;378(2):267-277. doi: 10.1007/s00441-019-03077-9. Epub 2019 Aug 7. Cell Tissue Res. 2019. PMID: 31392520
Peeling skin syndrome is a heterogeneous group of rare disorders. Peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads (PLACK syndrome, OMIM616295) is a newly described form of PSS with an autosomal recessive mode of inheritance. We …
Peeling skin syndrome is a heterogeneous group of rare disorders. Peeling skin, leukonychia, acral punctate keratoses, …
A new variant of autosomal recessive exfoliative ichthyosis.
Zvulunov A, Cagnano E, Kachko L, Shorer Z, Elbedour K, Stevens H. Zvulunov A, et al. Pediatr Dermatol. 2002 Sep-Oct;19(5):382-7. doi: 10.1046/j.1525-1470.2002.00111.x. Pediatr Dermatol. 2002. PMID: 12383092
We report unusual congenital ichthyosiform dermatosis in 5 of 12 children in two related families of unaffected, consanguineous Bedouin parents. ...The cutaneous manifestations share features of ichthyosis bullosa of Siemens (IBS) and peeling skin syndrome …
We report unusual congenital ichthyosiform dermatosis in 5 of 12 children in two related families of unaffected, consanguineous Bedou …