(Q39608294)

13 September 2017

title

Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene (English)

1 reference

13 September 2017

Stoll C

1

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13 September 2017

Sauvage P

series ordinal

2

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13 September 2017

publication date

1 April 2002

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13 September 2017

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13 September 2017

volume

45

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13 September 2017

issue

2

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13 September 2017

page(s)

59-62

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The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.

13 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2802%2901116-4

Identification of the gene for oral-facial-digital type I syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2802%2901116-4

Oral-facial-skeletal syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2802%2901116-4

Orofaciodigital syndrome, type I: a phenotypic and genetic analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2802%2901116-4

Cystic kidneys in a patient with oral-facial-digital syndrome type I.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2802%2901116-4

Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2802%2901116-4

STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2802%2901116-4

Glomerulocystic kidney disease--nosological considerations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2802%2901116-4

The orofaciodigital (OFD) syndromes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2802%2901116-4

inferred from DOI database lookup

7 January 2021

based on heuristic

Polycystic kidney disease in a patient with the oral-facial-digital syndrome-Type I*

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2802%2901116-4

inferred from DOI database lookup

7 January 2021

based on heuristic

Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies

1 reference

https://api.crossref.org/works/10.1016%2FS0003-3995%2802%2901116-4

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0003-3995(02)01116-4

1 reference

13 September 2017

1 reference