Oculo‐facio‐cardio‐dental syndrome: Skewed X chromosome inactivation in mother and daughter suggest X‐linked dominant Inheritance (Q79276035)

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20 December 2019

title

Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance (English)

1 reference

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https://api.crossref.org/works/10.1002/AJMG.A.20444

20 December 2019

Oculo‐facio‐cardio‐dental syndrome: Skewed X chromosome inactivation in mother and daughter suggest X‐linked dominant Inheritance (English)

1 reference

30 March 2024

1 reference

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30 March 2024

eye abnormalities

1 reference

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30 March 2024

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30 March 2024

1

Peter Hedera

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30 March 2024

author name string

Jerome L. Gorski

2

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30 March 2024

language of work or name

English

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14608648

30 March 2024

publication date

1 December 2003

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20 December 2019

15 December 2003

1 reference

National Center for Biotechnology Information

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full work available at URL

30 March 2024

http://deepblue.lib.umich.edu/bitstream/2027.42/34669/1/20444_ftp.pdf

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30 March 2024

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30 March 2024

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American Journal of Medical Genetics

30 March 2024

published in

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20 December 2019

volume

123A

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20 December 2019

issue

3

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page(s)

261-266

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Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome?

20 December 2019

cites work

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1

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Oculo-facio-cardio-dental (OFCD) syndrome

30 March 2024

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1 reference

Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism

30 March 2024

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30 March 2024

Cuspid gigantism

https://api.crossref.org/works/10.1002/AJMG.A.20444

5

1 reference

Radiculomegaly of canines and congenital cataracts--a syndrome?

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20444

6

1 reference

Oculo-Facio-Cardio-Dental (OFCD) syndrome

30 March 2024

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1 reference

Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20444

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1 reference

Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients

30 March 2024

https://api.crossref.org/works/10.1002/AJMG.A.20444

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1 reference

X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance

30 March 2024

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1 reference

A very large maxillary cuspid

30 March 2024

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30 March 2024

Identifiers

DOI

10.1002/AJMG.A.20444

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14608648%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

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