(Q68257785)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3338790%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3338790%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

main subject

xeroderma pigmentosum

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3338790%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

author name string

F Crovato

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3338790%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

publication date

1 January 1988

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3338790%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3338790%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

volume

78

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3338790%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3338790%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

page(s)

106-108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3338790%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00291250

23 September 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

The Tay syndrome (congenital ichthyosis with trichothiodystrophy)

1 reference

12 December 2020

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

1 reference

12 December 2020

The Tay syndrome (congenital ichthyosis with trichothiodystrophy).

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

"Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred

1 reference

12 December 2020

Trichothiodystrophy--BIDS, IBIDS and PIBIDS?

1 reference

12 December 2020

Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities. A link between the ichthyosis-associated and BIDS syndromes.

1 reference

12 December 2020

PIBI(D)S syndrome--trichothiodystrophy with xeroderma pigmentosum (group D) mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Amino acid analysis in hair from PIBI(D)S syndrome

1 reference

12 December 2020

Ichthyosis congenita, cataract, mental retardation, ataxia, osteosclerosis and immunologic deficiency--a particular syndrome?

1 reference

12 December 2020

ON THE PROBLEM OF COMBINATION OF SYMPTOMS IN ICHTHYOSIS VULGARIS WITH BAMBOO HAIR FORMATION AND ECTODERMAL DYSPLASIA

1 reference

12 December 2020

Ichthyosis vulgaris, growth retardation, hair dysplasia, tooth abnormalities, immunologic deficiencies, psychomotor retardation and resorption disorders. Case report of 2 siblings

1 reference

12 December 2020

A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature

1 reference

12 December 2020

Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00291250

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3338790%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference