Work

Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion

Year: 2023

Type: article

Study design: Case Report

Source: Journal of Pediatric Endocrinology and Metabolism

DOI: 10.1515/jpem-2023-0249

Authors: John Odom, Carlos A. Bacino, Lefkothea P. Karaviti, Weimin Bi, Alfonso Hoyos-Martinez

Institutions: Baylor College of Medicine, Texas Children's Hospital, Baylor Genetics

Language: English

Topic: Genetic Syndromes and Imprinting

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4389675378

FWCI: 0.148

Cites: 19

Cited by: 1

Related to: 10