A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus

Toshikatsu Mitsui, Keisuke Nagasaki, Masaki Takagi, Satoshi Narumi, Tomohiro Ishii, Tomonobu Hasegawa

Research output: Contribution to journalArticle

14 Citations (Scopus)
Original languageEnglish
Pages (from-to)261-264
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number1
DOIs
Publication statusPublished - 2012 Jan

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Gs GTP-Binding Protein alpha Subunits
Pseudohypoparathyroidism
Dizygotic Twins
Genetic Loci
Comparative Genomic Hybridization
Gene Deletion
Pedigree
Phenotype

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus. / Mitsui, Toshikatsu; Nagasaki, Keisuke; Takagi, Masaki; Narumi, Satoshi; Ishii, Tomohiro; Hasegawa, Tomonobu.

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 1, 01.2012, p. 261-264.

Research output: Contribution to journalArticle

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