Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder caused by biallelic germline mutations in one of the mismatch repair genes. Carriers are at exceptionally high risk for developing, typically in early life, hematological and brain malignancies,...

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Hlavní autoři:	Firas Akrout, Ahlem Achour, Carli M. J. Tops, Richard Gallon, Rym Meddeb, Sameh Achoura, Mariem Ben Rekaya, Emna Hamdeni, Soumaya Rammeh, Ridha Chkili, Nada Mansouri, Neila Belguith, Ridha Mrad
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2023-08-01
Edice:	Frontiers in Oncology
Témata:	CMMRD hereditary cancer syndromes next-generation sequencing MLH1 gene Lynch syndrome cMSI
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fonc.2023.1195814/full
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