A novel variant in the GNAS complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism

Bibliographic Details
Main Authors:	Aldeeri, A.A (Author), Elman, S.A (Author), Krier, J.B (Author), Merola, J.F (Author), Smith, J.S (Author)
Format:	Article
Language:	English
Published:	Elsevier Inc. 2022
Subjects:	adult Albright hereditary osteodystrophy Albright syndrome allele Article body mass brachydactyly case report clinical article computer assisted tomography female G protein G protein coupled receptor genetic variability genodermatoses genotype phenotype correlation GNAS GPCR guanine nucleotide binding protein high throughput sequencing hirsutism human human tissue illumina sequencing indel mutation leukocyte obesity protein serine threonine kinase pseudopseudohypoparathyroidism punch biopsy soft tissue calcification stimulatory guanine nucleotide binding protein whole exome sequencing
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