Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome

Author:

Rebora Alfredo,Crovato Franco

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. Arbisser AI, Scott CI, Howell RR, Ong PS, Con HL (1976) A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature. Birth Defects 12:219?228

2. Braun-Falco O, Ring J, Butenandt O, Selzle D, Landthaler M (1981) Ichthyosis vulgaris, Minderwuchs, Haardysplasie, Zahnanomalien, Immundefekte, psychomotorische Retardation und Resorptionst�rungen Hautarzt 32:67?74

3. Calderon R, Gonzalez-Cantu N (1979) Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation. J Pediatr 95:1007?1008

4. Crovato F, Borrone F, Rebora A (1983) Trichothiodystrophy-BIDS, IBIDS and PIBIDS? Br J Dermatol 108:247

5. Crovato F, Borrone F, Rebora A (1984) The Tay syndrome (congenital ichthyosis with trichothiodystrophy). Eur J Pediatr 142:233?234

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1. Ichthyosis-Trichothiodystrophy Syndrome;Neurocutaneous Disorders;2022

2. Defects of enzymes and structural proteins;Neurocutaneous Disorders;2016

3. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations;Journal of Medical Genetics;2008-06-25

4. Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy;Neurocutaneous Disorders;2004-01-08

5. What's new in trichothiodystrophy;Journal of the European Academy of Dermatology and Venereology;2001-01

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