Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome

Human Genetics

Volumn 78, Issue 1, 1988, Pages 106-108

  Rebora, Alfredo ^a   Crovato, Franco ^b  

^a UNIVERSITY OF GENOA   (Italy)

^b ASL 4   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CLASSIFICATION; CLINICAL ARTICLE; HEREDITY; HUMAN; PRIORITY JOURNAL; SHORT SURVEY; SYNDROME BIDS; SYNDROME IBIDS; SYNDROME PIBIDS; TRICHOTHIODYSTROPHY; XERODERMA PIGMENTOSUM;

HAIR DISEASES; HUMAN; PHOTOSENSITIVITY DISORDERS; SULFUR; SYNDROME; XERODERMA PIGMENTOSUM;

EID: 0023840854     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/BF00291250     Document Type: Letter

References (23)

1. A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature
2. Ichthyosis vulgaris, Minderwuchs, Haardysplasie, Zahnanomalien, Immundefekte, psychomotorische Retardation und Resorptionstörungen
3. Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation
4. Trichothiodystrophy-BIDS, IBIDS and PIBIDS?
5. The Tay syndrome (congenital ichthyosis with trichothiodystrophy)
6. Flattened hair syndrome: a new disease
7. An extremely rare recessive hereditary syndrome including cerebellar ataxia, oligophrenia, cataract, and other features
8. The Tay syndrome (congenital ichthyosis with trichothiodystrophy)
9. Brittle” hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred
10. Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities. A link between the ichthyosis-associated and BIDS syndromes
11. Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome)
12. Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases
13. Ichthyosis congenita, Katarakt, Schwachsinn, Ataxie, Osteosklerose und Abwehrdefekt — ein eigenständiges Syndrom?
14. Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
15. Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair
16. Trichothiodystrophy. Sulfur-deficient brittle hair as a marker for neuroectodermal symptom complex
17. Trichothiodystrophy with xeroderma pigmentosum (group D) mutation
18. Amino acid analysis in hair from PIBI(D)S syndrome
19. Zur Frage der Merkmalskombination bei Ichthyosis vulgaris mit Bambushaarbildung und ecktodermaler Dysplasie
20. Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity
21. Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder
22. PIBI(D)S syndrome a new entity with defect of deoxyribonucleic acid excision repair system Reply