(Q33596996)

28 July 2017

Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. (English)

1 reference

28 July 2017

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al-Gazali LI

1

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28 July 2017

Mueller RF

2

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28 July 2017

Caine A

3

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28 July 2017

Antoniou A

4

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28 July 2017

McCartney A

5

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28 July 2017

Fitchett M

6

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28 July 2017

Dennis NR

7

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28 July 2017

language of work or name

English

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publication date

1 January 1990

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Journal of Medical Genetics

28 July 2017

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28 July 2017

27

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28 July 2017

59-63

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28 July 2017

1

1 reference

Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016884

Focal dermal hypoplasia syndrome. A review of the literature and report of two cases

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016884

Two cases of X/autosome translocation in females with incontinentia pigmenti.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016884

14 July 2018

The human Y chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016884

De novo X;Y translocation associated with imperforate anus and retinal pigmentary abnormalities.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016884

X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016884

De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016884

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016884

30 October 2018

Identifiers

DOI

10.1136/JMG.27.1.59

1 reference

28 July 2017

1 reference

28 July 2017

1 reference