A case of pseudohypoparathyroidism type ia with a novel frameshift mutation in the GNAS gene

Early diagnosis of osteoma cutis by skin biopsy

Kazuki Kodo, Hiroshi Maeda, Hidechika Morimoto, Makoto Wada, Tetsuya Imura, Hisakazu Nakajima

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)15-18
Number of pages4
JournalClinical Pediatric Endocrinology
Volume28
Issue number1
DOIs
Publication statusPublished - 2019 Jan 1
Externally publishedYes

Fingerprint

Pseudohypoparathyroidism
Frameshift Mutation
Early Diagnosis
Biopsy
Skin
Genes
Progressive Osseous Heteroplasia
Albright's hereditary osteodystrophy

Keywords

  • Albright’s hereditary osteodystrophy
  • GNAS
  • Osteoma cutis
  • Pseudohypoparathyroidism type Ia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

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.

In: Clinical Pediatric Endocrinology, Vol. 28, No. 1, 01.01.2019, p. 15-18.

Research output: Contribution to journalArticle

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. In: Clinical Pediatric Endocrinology. 2019 ; Vol. 28, No. 1. pp. 15-18.
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