A novel variant in the GNAS complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-03-01
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| Series: | JAAD Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352512622000121 |
| _version_ | 1818320878974271488 |
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| author | Jeffrey S. Smith, MD, PhD Abdulrahman A. Aldeeri, MD Scott A. Elman, MD Joel B. Krier, MD Joseph F. Merola, MD, MMSc |
| author_facet | Jeffrey S. Smith, MD, PhD Abdulrahman A. Aldeeri, MD Scott A. Elman, MD Joel B. Krier, MD Joseph F. Merola, MD, MMSc |
| author_sort | Jeffrey S. Smith, MD, PhD |
| collection | DOAJ |
| first_indexed | 2024-12-13T10:32:01Z |
| format | Article |
| id | doaj.art-ec5ba2d2f7df42438556e8f676a4c305 |
| institution | Directory Open Access Journal |
| issn | 2352-5126 |
| language | English |
| last_indexed | 2024-12-13T10:32:01Z |
| publishDate | 2022-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | JAAD Case Reports |
| spelling | doaj.art-ec5ba2d2f7df42438556e8f676a4c3052022-12-21T23:50:50ZengElsevierJAAD Case Reports2352-51262022-03-0121103105A novel variant in the GNAS complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidismJeffrey S. Smith, MD, PhD0Abdulrahman A. Aldeeri, MD1Scott A. Elman, MD2Joel B. Krier, MD3Joseph F. Merola, MD, MMSc4Department of Dermatology, Brigham and Women’s Hospital, Boston, Massachusetts; Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts; Department of Dermatology, Beth Israel Deaconess Medical Center, Boston, Massachusetts; Dermatology Program, Boston Children’s Hospital, Boston, Massachusetts; Harvard Medical School, Boston, MassachusettsDepartment of Dermatology, Brigham and Women’s Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Department of Genetics, Brigham and Women’s Hospital, Boston, Massachusetts; Division of Genetics and Genomics, Boston Children’s Hospital, Boston, Massachusetts; Department of Internal Medicine, King Saud University Medical City, Riyadh, Saudi ArabiaDepartment of Dermatology, Brigham and Women’s Hospital, Boston, Massachusetts; Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts; Department of Dermatology, Beth Israel Deaconess Medical Center, Boston, Massachusetts; Dermatology Program, Boston Children’s Hospital, Boston, Massachusetts; Harvard Medical School, Boston, MassachusettsDepartment of Dermatology, Brigham and Women’s Hospital, Boston, Massachusetts; Department of Genetics, Brigham and Women’s Hospital, Boston, Massachusetts; Correspondence to: Joel B. Krier, MD, Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA.Department of Dermatology, Brigham and Women’s Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Joseph F. Merola, MD, MMSc, Brigham and Women’s Hospital, 41 Avenue Louis Pasteur, Room 319, Boston, MA 02115.http://www.sciencedirect.com/science/article/pii/S2352512622000121Albright hereditary osteodystrophygenodermatosesG proteinGNASGPCRpseudopseudohypoparathyroidism |
| spellingShingle | Jeffrey S. Smith, MD, PhD Abdulrahman A. Aldeeri, MD Scott A. Elman, MD Joel B. Krier, MD Joseph F. Merola, MD, MMSc A novel variant in the GNAS complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism JAAD Case Reports Albright hereditary osteodystrophy genodermatoses G protein GNAS GPCR pseudopseudohypoparathyroidism |
| title | A novel variant in the GNAS complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism |
| title_full | A novel variant in the GNAS complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism |
| title_fullStr | A novel variant in the GNAS complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism |
| title_full_unstemmed | A novel variant in the GNAS complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism |
| title_short | A novel variant in the GNAS complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism |
| title_sort | novel variant in the gnas complex locus causes albright hereditary osteodystrophy with pseudopseudohypoparathyroidism |
| topic | Albright hereditary osteodystrophy genodermatoses G protein GNAS GPCR pseudopseudohypoparathyroidism |
| url | http://www.sciencedirect.com/science/article/pii/S2352512622000121 |
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