(Q34327156)

1 August 2017

title

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap (English)

1 reference

1 August 2017

main subject

focal dermal hypoplasia

1 reference

Gabriele Gillessen-Kaesbach

inferred from title

author

4

object named as

Gabriele Gillessen-Kaesbach

0 references

Kerstin Kutsche

14

object named as

Kerstin Kutsche

1 reference

1 August 2017

13

Martin Zenker

1 reference

1 August 2017

7

Anita Rauch

1 reference

1 August 2017

May-Britt Harmsen

1

1 reference

1 August 2017

Silvia Azzarello-Burri

2

1 reference

1 August 2017

M Mar García González

3

1 reference

1 August 2017

Peter Meinecke

5

1 reference

1 August 2017

Dietmar Müller

6

1 reference

1 August 2017

Eva Rossier

8

1 reference

1 August 2017

Eva Seemanova

9

1 reference

1 August 2017

Christiane Spaich

10

1 reference

1 August 2017

Bernhard Steiner

11

1 reference

1 August 2017

Dagmar Wieczorek

12

1 reference

1 August 2017

publication date

11 March 2009

1 reference

European Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

17

1 reference

1 August 2017

issue

10

1 reference

1 August 2017

page(s)

1207-1215

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.40

1 August 2017

exact match

0 references

cites work

Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986635

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986635

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986635

Monounsaturated fatty acid modification of Wnt protein: its role in Wnt secretion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986635

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects 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=2986635

X-inactivation and human disease: X-linked dominant male-lethal disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986635

Wnt proteins are lipid-modified and can act as stem cell growth factors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986635

Skewed X inactivation in X-linked disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986635

MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz 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=2986635

Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986635

Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene 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=2986635

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986635

Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.40

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.40

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.40

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.40

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.40

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.40

21 January 2018

Focal dermal hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986635

[Cutaneous aplasia, non compaction of the left ventricle and severe cardiac arrhythmia: a new case of MLS syndrome (microphtalmia with linear skin defects)]

27 October 2018

1 reference

12 December 2020

Focal dermal hypoplasia syndrome. An update

1 reference

12 December 2020

MIDAS syndrome respectively MLS syndrome: a separate entity rather than a particular lyonization pattern of the gene causing Goltz syndrome

1 reference

12 December 2020

Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12

1 reference

12 December 2020

Why females are mosaics, X-chromosome inactivation, and sex differences in disease

1 reference

12 December 2020

An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2009.40

1 reference

Dimensions Publication ID

1 August 2017

0 references

1 reference

1 August 2017

1 reference