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A typical 22q11.2 deletion syndrome and pseudohypoparathyroidism: A CARE compliant case report

RATIONALE: It is rare to find 22q11.2 deletion syndrome with pseudohypoparathyroidism in children. Furthermore, the phenotypic spectrum of this disorder varies widely. PATIENT CONCERNS: A patient was diagnosed with pseudohypoparathyroidism at age 14 years because of convulsions, hypocalcemia, hyperp...

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Detalles Bibliográficos
Autores principales: Liu, Xi-Juan, Yan, Chen, Jia, Jing-Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636977/
https://www.ncbi.nlm.nih.gov/pubmed/31232956
http://dx.doi.org/10.1097/MD.0000000000016109