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Syndromes / Sabinas brittle hair syndrome / IBIDS syndrome / PIBI(D)S syndrome / BIDS syndrome / XPB / Ichthyosis / DNA repair / Nucleotide excision repair / Health / Genodermatoses / Rare diseases


Trichothiodystrophy Author: Doctor Alfredo Rossi1 and Doctor C. Cantisani. Creation date: June 2004 Scientific Editor: Prof Antonella Tosti 1
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Document Date: 2004-06-02 10:27:31


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City

Porto / Lucky / New York / Gentner / /

Company

Fortina AB / Elsevier Science BV / Goldman / Kindred / Harcourt SA / Sperling LC / Renault / HP / MET ISO LEU TYR PHE HIS LYS N.V. / /

Country

Mexico / /

Event

Product Issues / /

IndustryTerm

nervous system imaging / model systems / diagnostic tool / /

MarketIndex

PIBIDS / /

MedicalCondition

recessive disorder / microcephaly / X-Ray microanalysis Severe sulphur deficiency / ataxia and gonadal dysfunction / congenital heart disease / progeria / JE / dysarthria / seizures / Sabina’s syndrome / physical and mental retardation / Chapmann S. The Trichothiodystrophy syndrome / erythroderma / recurrent infections / Tay syndrome / Bonsmann G. The Tay syndrome / mild mental retardation / intention tremor / Mayne L. Xeroderma pigmentosum / neurosensory hearing impairment / relative infertility / follicular keratosis / Short stature IBIDS Syndrome Ichthyosis / PIBIDS syndrome / peripheral neuropathy / rare autosomal recessive disorders / hereditary disorders / sulphur deficiency / hemiparesis / Human Illness / xeroderma pigmentosum / Tay's syndrome / hypogonadism / inherited DNA repair disorders / delayed puberty / De Boeck K. Bilateral cataract / rare autosomal recessive genetic disorder / freckles / chronic neutropenia / infections / Marinesco-Sjögren syndrome / telangiectasias / Pollitt syndrome / infertility / S syndrome / high myopia / actinic cheilitis / mental retardation / burn / cancer / quadriplegia / cryptorchidism / IBIDS SIBIDS Syndrome Osteosclerosis / Low sulfur hair syndrome / often marked osteosclerosis / Carcinogenesis / human DNA repair disorder / autism / Neutropenia / Sabinas brittle hair syndrome / eczema / ataxia / pyramidal signs / bilateral cataracts / Itching / lethargy / Ichthyosiform erythroderma / cystine deficiency / dental caries / cerebellar deficiency / diseases / lamellar ichthyosis / hypohidrosis / IBIDS syndrome / hypergonadotrophic hypogonadism / skin cancers / strabismus / Cockayne syndrome / autosomal recessive syndrome / ichthyosis / several disorders / BIDS syndrome / cataract / human disease / Syndrome / nail dystrophy syndrome / osteosclerosis / congenital ichthyosis / /

OperatingSystem

XP / /

Person

Van Neste / Lorette J. Collodion / R. Trichothiodystrophy / Ann Dermatol Venereol / SER GLU PRO GLY ALA / Arch Dermatol / Antonella Tosti / Gregorio L. Trichothiodystrophy / /

Position

Scientific Editor / Sybert VP / Marshall / /

Product

DNA excision-repair system / repair / DNA excision repair / /

ProvinceOrState

Indiana / New York / Pennsylvania / /

RadioStation

Pedrini AM / Bailis AM / /

Region

northern Indiana / /

Technology

radiation / X-Ray / MRI / DNA synthesis / /

URL

http /

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