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

^*Corresponding author for this work

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

6 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
Pages (from-to)	700
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

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10.4103/0019-5154.193712

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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.",

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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 - https://www.scopus.com/pages/publications/84995468936

UR - https://www.scopus.com/pages/publications/84995468936#tab=citedBy

U2 - 10.4103/0019-5154.193712

DO - 10.4103/0019-5154.193712

M3 - Article

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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

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