(Q41752440)

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Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome

scientific article published on July 2000

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1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

author name string

Rauen KA

1

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

Cotter PD

2

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

Bitts SM

3

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

Cox VA

4

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

Golabi M

5

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

publication date

1 July 2000

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

93

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

219-222

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

The cardio-facio-cutaneous syndrome: report of a patient and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Cardio-facio-cutaneous (CFC) syndrome: report of a new patient.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same?

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Cardio-facio-cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Cardio-Facio-cutaneous (CFC) syndrome: Report of two patients without hyperkeratotic skin lesions

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Intestinal malrotation in a child with cardio-facio-cutaneous syndrome

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

A case of cardio-facio-cutaneous syndrome.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

The CFC syndrome--report of the first two cases outside the United States.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Cardio-facio-cutaneous syndrome: three additional cases and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

CFC syndrome: report on three additional cases.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Cardiofaciocutaneous syndrome with new ectodermal manifestations

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

A Noonan-like short stature syndrome with sparse hair.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Skin manifestations of cardio-facio-cutaneous syndrome.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Cardiofacio cutaneous syndrome: Notes on clinical variability and natural history

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Cardiofaciocutaneous syndrome

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

More on the Noonan-CFC controversy

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Noonan syndrome: genotype analysis of the Noonan syndrome critical region at chromosome 12q in a three-generation family

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Cutaneous presentation of the cardio-facio-cutaneous syndrome

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Cardio‐faciocutaneous (CFC) Syndrome: Neurological Features in Two Children

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome?

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Deletion (12)(q15q21.2).

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000731%2993%3A3%3C219%3A%3AAID-AJMG12%3E3.0.CO%3B2-5

21 January 2018

Identifiers

10.1002/1096-8628(20000731)93:3<219::AID-AJMG12>3.0.CO;2-5

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

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