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
Online Access:	View Fulltext in Publisher


LEADER	01811nam a2200589Ia 4500
001	10-1016-j-jdcr-2021-12-038
008	220420s2022 CNT 000 0 und d
020			\|a 23525126 (ISSN)
245	1	0	\|a A novel variant in the GNAS complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism
260		0	\|b Elsevier Inc. \|c 2022
300			\|a 3
856			\|z View Fulltext in Publisher \|u https://doi.org/10.1016/j.jdcr.2021.12.038
650	0	4	\|a adult
650	0	4	\|a Albright hereditary osteodystrophy
650	0	4	\|a Albright syndrome
650	0	4	\|a allele
650	0	4	\|a Article
650	0	4	\|a body mass
650	0	4	\|a brachydactyly
650	0	4	\|a case report
650	0	4	\|a clinical article
650	0	4	\|a computer assisted tomography
650	0	4	\|a female
650	0	4	\|a G protein
650	0	4	\|a G protein coupled receptor
650	0	4	\|a genetic variability
650	0	4	\|a genodermatoses
650	0	4	\|a genotype phenotype correlation
650	0	4	\|a GNAS
650	0	4	\|a GPCR
650	0	4	\|a guanine nucleotide binding protein
650	0	4	\|a high throughput sequencing
650	0	4	\|a hirsutism
650	0	4	\|a human
650	0	4	\|a human tissue
650	0	4	\|a illumina sequencing
650	0	4	\|a indel mutation
650	0	4	\|a leukocyte
650	0	4	\|a obesity
650	0	4	\|a protein serine threonine kinase
650	0	4	\|a pseudopseudohypoparathyroidism
650	0	4	\|a pseudopseudohypoparathyroidism
650	0	4	\|a punch biopsy
650	0	4	\|a soft tissue calcification
650	0	4	\|a stimulatory guanine nucleotide binding protein
650	0	4	\|a whole exome sequencing
700	1	0	\|a Aldeeri, A.A. \|e author
700	1	0	\|a Elman, S.A. \|e author
700	1	0	\|a Krier, J.B. \|e author
700	1	0	\|a Merola, J.F. \|e author
700	1	0	\|a Smith, J.S. \|e author
773			\|t JAAD Case Reports

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