(Q66978397)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:517572%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

title

Christ-Siemens-Touraine syndrome--a clinical and genetic analysis of a large Brazilian kindred: III. Carrier detection (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:517572%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

Christ-Siemens-Touraine syndrom—a clinical and genetic analysis of a large Brazilian kindred: III. Carrier detection (English)

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

genetic carrier screening

20 June 2023

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A517572

8 July 2022

author name string

M. Pinheiro

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A517572

8 July 2022

N. Freire-Maia

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A517572

8 July 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=517572

8 July 2022

publication date

1 January 1979

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:517572%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

1 September 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320040204

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1320040204

20 June 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

American Journal of Medical Genetics Part A

20 June 2023

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:517572%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:517572%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:517572%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

page(s)

129-134

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:517572%20AND%20SRC:MED&resulttype=core&format=json

Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease

1 September 2019

cites work

6

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Odontotrichomelic Hypohidrotic Dysplasia A Clinical Reappraisal

20 June 2023

9

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

A Family History of Hereditary Anhidrotic Mesodermal-Ectodermal Dysplasia

20 June 2023

10

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Hypohidrotic ectodermal dysplasia. A study of sweat pores in the X-linked form and in a family with probable autosomal recessive inheritance

20 June 2023

12

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Congenital anhidrotic ectodermal dysplasia: Case report

20 June 2023

13

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Anhidrotic ectodermal dysplasia with anodontia: a study of two families

20 June 2023

14

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Herediatary anhidrotic ectodermal dysplasia. Studies in a Nigerian famil

20 June 2023

15

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

On the incidence of unilateral and bilateral colour blindness in heterozygous females

20 June 2023

16

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

20 June 2023

Ectodermal Dysplasias

19

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Ectodermal Dysplasias Revisited

20 June 2023

20

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

An ectodermal dysplasia syndrome of alopecia, onychodysplasia, hypohidrosis, hyperkeratosis, deafness and other manifestations

20 June 2023

22

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Diminished sweat pores in hypohidrotic ectodermal dysplasia: a new method for assessment

20 June 2023

23

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

20 June 2023

The Aarskog syndrome.

24

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Journal of dentistry for children

20 June 2023

29

42

133

Herer

1975

1 reference

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Hereditary ectodermal dysplasia of anhidrotic type. A report of three cases in boys aged 3-4 months

20 June 2023

31

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

20 June 2023

A Stain for Sweat Pores

32

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Gene effect in carriers of anhidrotic ectodermal dysplasia

20 June 2023

33

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

The occurrence of ectodermal dysplasia and corneal dysplasia in one family: an inquiry into the mode of inheritance

20 June 2023

34

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Racial admixture in north-eastern Brazil

20 June 2023

35

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Hereditary ectodermal dysplasia of the anhidrotic type; report of a case in a Negro

20 June 2023

41

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Helvetica paediatrica acta

20 June 2023

49

11

604

Perabo

1956

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Identifying carriers for X-linked hypohidrotic ectodermal dysplasia

20 June 2023

51

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Clinical Spectrum of Anhidrotic Ectodermal Dysplasia

20 June 2023

55

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Congenital ectodermal dysplasia of the anhidrotic type

20 June 2023

57

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Anhidrotic hereditary ectodermal dysplasia; report of two cases in a brother and sister

20 June 2023

59

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Hereditary anhidrotic ectodermal dysplasia, a clinical and pathologic study

20 June 2023

66

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

Hypohidrotic (or anhidrotic) ectodermal dysplasia--an appraisal of diagnostic methods

20 June 2023

67

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320040204

20 June 2023

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:517572%20AND%20SRC:MED&resulttype=core&format=json

1 September 2019

1 reference