A case of pseudohypoparathyroidism type Ia with a novel frameshift mutation in the GNAS gene: early diagnosis of osteoma cutis by skin biopsy

Detalles Bibliográficos
Autores principales: Kodo, Kazuki, Maeda, Hiroshi, Morimoto, Hidechika, Wada, Makoto, Imura, Tetsuya, Nakajima, Hisakazu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2019
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356092/
https://www.ncbi.nlm.nih.gov/pubmed/30745729
http://dx.doi.org/10.1297/cpe.28.15
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author Kodo, Kazuki
Maeda, Hiroshi
Morimoto, Hidechika
Wada, Makoto
Imura, Tetsuya
Nakajima, Hisakazu
author_facet Kodo, Kazuki
Maeda, Hiroshi
Morimoto, Hidechika
Wada, Makoto
Imura, Tetsuya
Nakajima, Hisakazu
author_sort Kodo, Kazuki
collection PubMed
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spelling pubmed-63560922019-02-11 A case of pseudohypoparathyroidism type Ia with a novel frameshift mutation in the GNAS gene: early diagnosis of osteoma cutis by skin biopsy Kodo, Kazuki Maeda, Hiroshi Morimoto, Hidechika Wada, Makoto Imura, Tetsuya Nakajima, Hisakazu Clin Pediatr Endocrinol Short Communication The Japanese Society for Pediatric Endocrinology 2019-01-31 2019 /pmc/articles/PMC6356092/ /pubmed/30745729 http://dx.doi.org/10.1297/cpe.28.15 Text en 2019©The Japanese Society for Pediatric Endocrinology This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License. (CC-BY-NC-ND 4.0: http://creativecommons.org/licenses/by-nc-nd/4.0/）.
spellingShingle Short Communication
Kodo, Kazuki
Maeda, Hiroshi
Morimoto, Hidechika
Wada, Makoto
Imura, Tetsuya
Nakajima, Hisakazu
A case of pseudohypoparathyroidism type Ia with a novel frameshift mutation in the GNAS gene: early diagnosis of osteoma cutis by skin biopsy
title A case of pseudohypoparathyroidism type Ia with a novel frameshift mutation in the GNAS gene: early diagnosis of osteoma cutis by skin biopsy
title_full A case of pseudohypoparathyroidism type Ia with a novel frameshift mutation in the GNAS gene: early diagnosis of osteoma cutis by skin biopsy
title_fullStr A case of pseudohypoparathyroidism type Ia with a novel frameshift mutation in the GNAS gene: early diagnosis of osteoma cutis by skin biopsy
title_full_unstemmed A case of pseudohypoparathyroidism type Ia with a novel frameshift mutation in the GNAS gene: early diagnosis of osteoma cutis by skin biopsy
title_short A case of pseudohypoparathyroidism type Ia with a novel frameshift mutation in the GNAS gene: early diagnosis of osteoma cutis by skin biopsy
title_sort case of pseudohypoparathyroidism type ia with a novel frameshift mutation in the gnas gene: early diagnosis of osteoma cutis by skin biopsy
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356092/
https://www.ncbi.nlm.nih.gov/pubmed/30745729
http://dx.doi.org/10.1297/cpe.28.15
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