Consanguineous couple with SDHD gene mutations: Diagnosis, treatment, and implications of family genetic testing

Autor:	Johanna Braegelmann, Annie Mathew, Dagmar Führer‐Sakel, Harald Lahner
Jazyk:	angličtina
Rok vydání:	2024
Předmět:	glomus tumor hereditary pheochromocytoma paraganglioma syndromes SDHD gene mutation Medicine Medicine (General) R5-920
Zdroj:	Clinical Case Reports, Vol 12, Iss 4, Pp n/a-n/a (2024)
Druh dokumentu:	article
ISSN:	2050-0904
DOI:	10.1002/ccr3.8572
Popis:	Key Clinical Messages The newly published clinical consensus guideline on the management of PGL/PCC is helpful for decision‐making for diagnostics and treatment. Still, the treatment of patients with SDHD gene mutations requires an individual approach and those patients belong to multiprofessional teams. It is often assumed that spouses are genetically unrelated. However, the genetic relationships between spouses should always be examined empathetically and impartially.
Databáze:	Directory of Open Access Journals
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