(Q34633997)

3 August 2017

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

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3 August 2017

focal dermal hypoplasia

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8

Ankita Patel

1 reference

3 August 2017

Xiaoling Wang

1

1 reference

3 August 2017

V Reid Sutton

2

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3 August 2017

J Omar Peraza-Llanes

3

1 reference

3 August 2017

Zhiyin Yu

4

1 reference

3 August 2017

Rebecca Rosetta

5

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3 August 2017

Ying-Chuck Kou

6

1 reference

3 August 2017

Tanya N Eble

7

1 reference

3 August 2017

Christina Thaller

9

1 reference

3 August 2017

Ping Fang

10

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3 August 2017

Ignatia B Van den Veyver

11

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3 August 2017

language of work or name

English

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publication date

3 June 2007

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3 August 2017

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3 August 2017

39

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3 August 2017

836-838

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3 August 2017

7

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https://scigraph.springernature.com/pub.10.1038/ng2057

3 August 2017

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cites work

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

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

21 January 2018

1 reference

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

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

21 January 2018

1 reference

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

21 January 2018

1 reference

Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine

21 January 2018

1 reference

Drosophila segment polarity gene product porcupine stimulates the posttranslational N-glycosylation of wingless in the endoplasmic reticulum

21 January 2018

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Drosophila wnt-1 undergoes a hydrophobic modification and is targeted to lipid rafts, a process that requires porcupine

21 January 2018

1 reference

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

21 January 2018

1 reference

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

21 January 2018

1 reference

The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt family

21 January 2018

1 reference

Focal dermal hypoplasia syndrome. Case report and literature review

21 January 2018

1 reference

7 January 2021

Focal dermal hypoplasia syndrome. An update

1 reference

7 January 2021

Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata

1 reference

7 January 2021

Focal dermal hypoplasia syndrome. An electron microscopical study of the skin lesions

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG2057

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Dimensions Publication ID

3 August 2017

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1 reference