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PIBI(D)S syndrome--trichothiodystrophy with xeroderma pigmentosum (group D) mutation
scientific article published on 01 May 1987
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3584577
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3584577%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 September 2019
title
PIBI(D)S syndrome--trichothiodystrophy with xeroderma pigmentosum (group D) mutation
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3584577
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3584577%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 September 2019
main subject
xeroderma pigmentosum
1 reference
based on heuristic
inferred from title
xeroderma pigmentosum group D
1 reference
based on heuristic
inferred from title
author
Alfredo Rebora
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3584577
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3584577%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 September 2019
author name string
F Crovato
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3584577
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3584577%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 September 2019
language of work or name
English
0 references
publication date
1 May 1987
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3584577
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3584577%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 September 2019
published in
Journal of the American Academy of Dermatology
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3584577
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3584577%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 September 2019
volume
16
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3584577
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3584577%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 September 2019
issue
5 Pt 1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3584577
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3584577%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 September 2019
page(s)
940-947
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3584577
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3584577%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 September 2019
cites work
Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities. A link between the ichthyosis-associated and BIDS syndromes.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0190-9622%2887%2970118-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Tay syndrome (congenital ichthyosis with trichothiodystrophy).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0190-9622%2887%2970118-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Trichothiodystrophy--BIDS, IBIDS and PIBIDS?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0190-9622%2887%2970118-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Tay syndrome (congenital ichthyosis with trichothiodystrophy)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0190-9622%2887%2970118-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0190-9622%2887%2970118-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0190-9622%2887%2970118-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Instrumentation and action spectra in light-associated diseases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0190-9622%2887%2970118-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Amino acid analysis in hair from PIBI(D)S syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0190-9622%2887%2970118-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
PIBIDS: Tay's syndrome and xeroderma pigmentosum
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0190-9622%2887%2970118-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neurocutaneous syndromes in children
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0190-9622%2887%2970118-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0190-9622%2887%2970118-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Proteins of normal hair and of cysteine-deficient hair from mentally retarded siblings
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0190-9622%2887%2970118-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0190-9622%2887%2970118-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
PIBI(D)S syndrome: a new entity with defect of the deoxyribonucleic acid excision repair system
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0190-9622%2887%2970118-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0190-9622%2887%2970118-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0190-9622(87)70118-2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3584577
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3584577%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 September 2019
PubMed publication ID
3584577
1 reference
stated in
Europe PubMed Central
PubMed publication ID
3584577
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3584577%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 September 2019
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