Neonatal osteoma cutis due to a mutation in GNAS

Yael Levy-Shraga; Ortal Barel; Elisheva Javasky; Aviv Barzilai; Shoshana Greenberger

doi:10.1111/pde.13879

Neonatal osteoma cutis due to a mutation in GNAS

Yael Levy-Shraga^*, Ortal Barel, Elisheva Javasky, Aviv Barzilai, Shoshana Greenberger

^*Corresponding author for this work

Sheba Medical Center at Tel Hashomer

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

1 Scopus citations

Abstract

We describe a 4-week-old baby boy who presented with white firm cutaneous nodules and failure to thrive. He did not have dysmorphic features, and laboratory tests including serum calcium, phosphorous, thyroid function, and parathyroid hormone level were within normal ranges. Whole exome sequencing revealed an inactivating mutation in GNAS that was previously described as causing pseudohypoparathyroidism.

Original language	English
Pages (from-to)	732-734
Number of pages	3
Journal	Pediatric Dermatology
Volume	36
Issue number	5
DOIs	https://doi.org/10.1111/pde.13879
State	Published - 1 Sep 2019

Keywords

GNAS
osteoma cutis
pseudohypoparathyroidism

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1111/pde.13879

Cite this

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abstract = "We describe a 4-week-old baby boy who presented with white firm cutaneous nodules and failure to thrive. He did not have dysmorphic features, and laboratory tests including serum calcium, phosphorous, thyroid function, and parathyroid hormone level were within normal ranges. Whole exome sequencing revealed an inactivating mutation in GNAS that was previously described as causing pseudohypoparathyroidism.",

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AU - Barzilai, Aviv

AU - Greenberger, Shoshana

PY - 2019/9/1

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KW - pseudohypoparathyroidism

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Neonatal osteoma cutis due to a mutation in GNAS

Abstract

Keywords

UN SDGs

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