Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant

Swathi Sunil Rao; Rathika D. Shenoy; Smrithi Salian; Katta M. Girisha

doi:10.4103/0019-5154.193712

Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant

Swathi Sunil Rao, Rathika D. Shenoy, Smrithi Salian, Katta M. Girisha

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

Abstract

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.

Original language	English
Number of pages	1
Journal	Indian Journal of Dermatology
Volume	61
Issue number	6
DOIs	https://doi.org/10.4103/0019-5154.193712
Publication status	Published - 01-11-2016

All Science Journal Classification (ASJC) codes

Dermatology

Access to Document

10.4103/0019-5154.193712

Cite this

@article{71b73d5c413046899ab86a34b7670e96,

title = "Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant",

abstract = "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.",

author = "Rao, {Swathi Sunil} and Shenoy, {Rathika D.} and Smrithi Salian and Girisha, {Katta M.}",

year = "2016",

month = nov,

day = "1",

doi = "10.4103/0019-5154.193712",

language = "English",

volume = "61",

journal = "Indian Journal of Dermatology",

issn = "0019-5154",

publisher = "Medknow Publications and Media Pvt. Ltd",

number = "6",

}

TY - JOUR

T1 - Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant

AU - Rao, Swathi Sunil

AU - Shenoy, Rathika D.

AU - Salian, Smrithi

AU - Girisha, Katta M.

PY - 2016/11/1

Y1 - 2016/11/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84995468936&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84995468936&partnerID=8YFLogxK

U2 - 10.4103/0019-5154.193712

DO - 10.4103/0019-5154.193712

M3 - Article

AN - SCOPUS:84995468936

SN - 0019-5154

VL - 61

JO - Indian Journal of Dermatology

JF - Indian Journal of Dermatology

IS - 6

ER -

Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant

Abstract

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Fingerprint

Cite this