Novel Mutation in a Child with Goltz Syndrome

Seema Kapoor; Vidyabrata Ghosh; John A. McGrath; Atul Mohan Kochar; Harit Kapoor; Reetika Malik

doi:10.1007/s12098-011-0513-y

Novel Mutation in a Child with Goltz Syndrome

Seema Kapoor, Vidyabrata Ghosh, John A. McGrath, Atul Mohan Kochar, Harit Kapoor, Reetika Malik

Dermatology

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

4 Citations (Scopus)

Abstract

Goltz syndrome or focal dermal hypoplasia is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. The authors report a female child clinically diagnosed as Goltz syndrome, confirmed to have a novel splice site mutation IVS2+1G>A of PORCN gene. Review of the 80 or so pathogenic mutations reported in the literature shows this to be a new mutation.

Original language	English
Pages (from-to)	120 - 123
Number of pages	4
Journal	Indian Journal of Pediatrics
Volume	79
Issue number	1
DOIs	https://doi.org/10.1007/s12098-011-0513-y
Publication status	Published - Jan 2012

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title = "Novel Mutation in a Child with Goltz Syndrome",

abstract = "Goltz syndrome or focal dermal hypoplasia is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. The authors report a female child clinically diagnosed as Goltz syndrome, confirmed to have a novel splice site mutation IVS2+1G>A of PORCN gene. Review of the 80 or so pathogenic mutations reported in the literature shows this to be a new mutation.",

author = "Seema Kapoor and Vidyabrata Ghosh and McGrath, {John A.} and Kochar, {Atul Mohan} and Harit Kapoor and Reetika Malik",

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AU - Ghosh, Vidyabrata

AU - McGrath, John A.

AU - Kochar, Atul Mohan

AU - Kapoor, Harit

AU - Malik, Reetika

PY - 2012/1

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N2 - Goltz syndrome or focal dermal hypoplasia is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. The authors report a female child clinically diagnosed as Goltz syndrome, confirmed to have a novel splice site mutation IVS2+1G>A of PORCN gene. Review of the 80 or so pathogenic mutations reported in the literature shows this to be a new mutation.

AB - Goltz syndrome or focal dermal hypoplasia is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. The authors report a female child clinically diagnosed as Goltz syndrome, confirmed to have a novel splice site mutation IVS2+1G>A of PORCN gene. Review of the 80 or so pathogenic mutations reported in the literature shows this to be a new mutation.

U2 - 10.1007/s12098-011-0513-y

DO - 10.1007/s12098-011-0513-y

M3 - Article

VL - 79

SP - 120

EP - 123

JO - Indian Journal of Pediatrics

JF - Indian Journal of Pediatrics

IS - 1

ER -

Novel Mutation in a Child with Goltz Syndrome

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