Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder.

Literature DB >> 5120162

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

C H Tay.

Abstract

Entities: Disease

Mesh：

Year: 1971 PMID： 5120162

Source DB: PubMed Journal: Arch Dermatol ISSN： 0003-987X

Keyword Cloud
Cited

× No keyword cloud information.

9 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

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

Authors: A Rebora; F Crovato
Journal: Hum Genet Date: 1988-01 Impact factor: 4.132

3. 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

4. Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

Authors: M Stefanini; P Lagomarsini; C F Arlett; S Marinoni; C Borrone; F Crovato; G Trevisan; G Cordone; F Nuzzo
Journal: Hum Genet Date: 1986-10 Impact factor: 4.132

5. Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.

Authors: L Stankler; D Lloyd; R J Pollitt; E S Gray; H Thom; G Russell
Journal: Arch Dis Child Date: 1982-03 Impact factor: 3.791

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

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

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

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

4. Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

5. Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.

6. Ichthyosis accompanied by neurological symptoms with special reference to epilepsy.

7. Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies.

8. A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters.

9. Trichothiodystrophy in a child with occult learning disorder.