A novel variant in the <i>GNAS</i> complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism.

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

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

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

Affiliation

Smith JS; Department of Dermatology, Brigham and Women's Hospital, Boston, Massachusetts.
Aldeeri AA; Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts.
Elman SA; Department of Dermatology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.
Krier JB; Dermatology Program, Boston Children's Hospital, Boston, Massachusetts.
Merola JF; Harvard Medical School, Boston, Massachusetts.

JAAD Case Rep ; 21: 103-105, 2022 Mar.

Article in En | MEDLINE | ID: mdl-35198712

Key words

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

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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Etiology_studies Language: En Journal: JAAD Case Rep Year: 2022 Type: Article

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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Etiology_studies Language: En Journal: JAAD Case Rep Year: 2022 Type: Article