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

Jeffrey S Smith; Abdulrahman A Aldeeri; Scott A Elman; Joel B Krier; Joseph F Merola

doi:10.1016/j.jdcr.2021.12.038

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

JAAD Case Rep. 2022 Jan 19:21:103-105. doi: 10.1016/j.jdcr.2021.12.038. eCollection 2022 Mar.

Authors

Jeffrey S Smith^{1

2

3

4

5}, Abdulrahman A Aldeeri^{1

5

6

7

8}, Scott A Elman^{1

2

3

4

5}, Joel B Krier^{1

6}, Joseph F Merola^{1

5}

Affiliations

¹ Department of Dermatology, Brigham and Women's Hospital, Boston, Massachusetts.
² Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts.
³ Department of Dermatology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.
⁴ Dermatology Program, Boston Children's Hospital, Boston, Massachusetts.
⁵ Harvard Medical School, Boston, Massachusetts.
⁶ Department of Genetics, Brigham and Women's Hospital, Boston, Massachusetts.
⁷ Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
⁸ Department of Internal Medicine, King Saud University Medical City, Riyadh, Saudi Arabia.

No abstract available

Keywords: AHO, Albright hereditary osteodystrophy; Albright hereditary osteodystrophy; G protein; GNAS; GPCR; PHP, pseudohypoparathyroidism; PTH, parathyroid hormone; genodermatoses; pseudopseudohypoparathyroidism.

Publication types

Case Reports