Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association (Q34321966)

1 August 2017

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Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association (English)

1 reference

1 August 2017

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Purificación Ros-Pérez

1

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1 August 2017

Francisco J Regidor

2

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1 August 2017

Esmeralda Colino

3

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1 August 2017

Cristina Martínez-Payo

4

1 reference

1 August 2017

Eva Barroso

5

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1 August 2017

Karen E Heath

6

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1 August 2017

publication date

29 June 2012

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1 August 2017

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1 August 2017

volume

12

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1 August 2017

page(s)

88

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Creative Commons Attribution 2.0 Generic

1 August 2017

copyright license

start time

29 June 2012

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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April 2022 Public Data File from Crossref

exact match

https://scigraph.springernature.com/pub.10.1186/1471-2431-12-88

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cites work

Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3514257

Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3514257

Is the prevalence of Klinefelter syndrome increasing?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3514257

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3514257

Aberrant recombination and the origin of Klinefelter syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3514257

Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3514257

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2431-12-88

Preserved fertility in a non-mosaic Klinefelter patient with a mutation in the fibroblast growth factor receptor 3 gene: Case Report

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2431-12-88

[Klinefelter's polygonosomy and achondroplasia]

21 January 2018

1 reference

12 December 2020

[Achondroplasia associated with Klinefelter's syndrome]

1 reference

12 December 2020

Achondroplasia with XXY karyotype

1 reference

12 December 2020

[Spanish cross-sectional growth study 2008. Part I: weight and height values in newborns of 26-42 weeks of gestational age]

1 reference

12 December 2020

[Spanish cross-sectional growth study 2008. Part II. Height, weight and body mass index values from birth to adulthood]

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2431-12-88

1 reference

Dimensions Publication ID

1 August 2017

0 references

1 reference

1 August 2017

1 reference