Literature DB >> 3338790

Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome.

A Rebora1, F Crovato.   

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Year:  1988        PMID： 3338790     DOI： 10.1007/bf00291250

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  21 in total

1.  An extremely rare recessive hereditary syndrome including cerebellar ataxia, oligophrenia, cataract, and other features.

Authors:  H GARLAND; D MOORHOUSE
Journal:  J Neurol Neurosurg Psychiatry       Date:  1953-05       Impact factor: 10.154

2.  Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder.

Authors:  C H Tay
Journal:  Arch Dermatol       Date:  1971-07

3.  Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.

Authors:  R J Pollitt; F A Jenner; M Davies
Journal:  Arch Dis Child       Date:  1968-04       Impact factor: 3.791

4.  The Tay syndrome (congenital ichthyosis with trichothiodystrophy)

Authors:  F Crovato; C Borrone; A Rebora
Journal:  Eur J Pediatr       Date:  1984-08       Impact factor: 3.183

5.  PIBI(D)S syndrome: a new entity with defect of the deoxyribonucleic acid excision repair system.

Authors:  F Crovato; A Rebora
Journal:  J Am Acad Dermatol       Date:  1985-10       Impact factor: 11.527

6.  Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.

Authors:  V H Price; R B Odom; W H Ward; F T Jones
Journal:  Arch Dermatol       Date:  1980-12

7.  Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome).

Authors:  J L Jorizzo; D J Atherton; R G Crounse; R S Wells
Journal:  Br J Dermatol       Date:  1982-06       Impact factor: 9.302

8.  The Tay syndrome (congenital ichthyosis with trichothiodystrophy).

Authors:  R Happle; H Traupe; H Gröbe; G Bonsmann
Journal:  Eur J Pediatr       Date:  1984-01       Impact factor: 3.183

9.  Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure.

Authors:  P A Lucky; N Kirsch; A W Lucky; D M Carter
Journal:  J Am Acad Dermatol       Date:  1984-08       Impact factor: 11.527

10.  Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.

Authors:  M D King; C L Gummer; J B Stephenson
Journal:  J Med Genet       Date:  1984-08       Impact factor: 6.318
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  2 in total

Review 1.  Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.

Authors:  S Faghri; D Tamura; K H Kraemer; J J Digiovanna
Journal:  J Med Genet       Date:  2008-06-25       Impact factor: 6.318

Review 2.  Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.

Authors:  V Shashi; J Zunich; T E Kelly; J S Fryburg
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318
  2 in total

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