Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant

Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300* in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the firs...

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Autores principales: Rao, Swathi Sunil, Shenoy, Rathika D, Salian, Smrithi, Girisha, Katta M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
E-IJD Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122302/
https://www.ncbi.nlm.nih.gov/pubmed/27904205
http://dx.doi.org/10.4103/0019-5154.193712
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author Rao, Swathi Sunil
Shenoy, Rathika D
Salian, Smrithi
Girisha, Katta M
author_facet Rao, Swathi Sunil
Shenoy, Rathika D
Salian, Smrithi
Girisha, Katta M
author_sort Rao, Swathi Sunil
collection PubMed
description Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300* in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent.
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spelling pubmed-51223022016-11-30 Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant Rao, Swathi Sunil Shenoy, Rathika D Salian, Smrithi Girisha, Katta M Indian J Dermatol E-IJD Case Report Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300* in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC5122302/ /pubmed/27904205 http://dx.doi.org/10.4103/0019-5154.193712 Text en Copyright: © Indian Journal of Dermatology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle E-IJD Case Report
Rao, Swathi Sunil
Shenoy, Rathika D
Salian, Smrithi
Girisha, Katta M
Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant
title Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant
title_full Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant
title_fullStr Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant
title_full_unstemmed Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant
title_short Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant
title_sort focal dermal hypoplasia with a de novo mutation p.e300* of porcn gene in a male infant
topic E-IJD Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122302/
https://www.ncbi.nlm.nih.gov/pubmed/27904205
http://dx.doi.org/10.4103/0019-5154.193712
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