Neuroimaging findings in children with constitutional mismatch repair deficiency syndrome

A Kerpel, M Yalon, M Soudack… - American Journal …, 2020 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Constitutional mismatch repair deficiency is a hereditary
childhood cancer predisposition syndrome characterized by brain tumors and colorectal and …

Multiple brain developmental venous anomalies as a marker for constitutional mismatch repair deficiency syndrome

SI Shiran, L Ben-Sira, R Elhasid… - American Journal …, 2018 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Biallelic constitutional mutations in DNA mismatch repair
genes cause a distinct syndrome, constitutional mismatch repair deficiency syndrome …

Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical …

S Chhabda, S Sudhakar, K Mankad, M Jorgensen… - Child's Nervous …, 2021 - Springer
Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare cancer-
predisposition syndrome associated with a high risk of developing a spectrum of …

An unusual case of constitutional mismatch repair deficiency syndrome with anaplastic ganglioglioma, colonic adenocarcinoma, osteosarcoma, acute myeloid …

B Daou, M Zanello, P Varlet, L Brugieres… - …, 2015 - journals.lww.com
BACKGROUND AND IMPORTANCE: Constitutional mismatch repair deficiency (CMMRD)
syndrome is a disorder with recessive inheritance caused by biallelic mismatch repair gene …

Ongoing issues with the management of children with constitutional mismatch repair deficiency syndrome

RA Farah, F Maalouf, N Abi Chahine, H Farhat… - European Journal of …, 2019 - Elsevier
Abstract Constitutional Mismatch Repair Deficiency (CMMRD) is a rare cancer
predisposition syndrome, presenting in childhood, in which affected patients develop …

Glioblastoma and Colorectal Adenocarcinoma in an Adolescent Girl with Constitutional Mismatch Repair Deficiency Syndrome Mimicking Neurofibromatosis Type-I …

F Aydın, D Altay, O Görükmez… - The Journal of …, 2020 - jpediatricacademy.com
Children with constitutional mismatch repair deficiency syndrome (CMMRDS) are prone to
different types of cancers. A 16-year-old girl who was misdiagnosed with neurofibromatosis …

Cerebral developmental venous anomalies in children with mismatch repair deficiency

B Kara, Y Paksoy, AO Çağlayan, N Seher… - The Turkish Journal …, 2022 - turkjpediatr.org
Background. Constitutional mismatch repair deficiency (CMMRD) is one of the rare cancer
predisposition syndromes. The aim of this study was to evaluate the cerebral developmental …

[HTML][HTML] Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium

D Bakry, M Aronson, C Durno, H Rimawi… - European journal of …, 2014 - Elsevier
Background Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer
predisposition syndrome for which data regarding clinical manifestations, molecular …

[HTML][HTML] Constitutional mismatch repair deficiency syndrome: Do we know it?

C Ramachandra, VR Challa… - Indian Journal of Human …, 2014 - ncbi.nlm.nih.gov
Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome
caused by homozygous mutations in mismatch repair genes. This is characterized by the …

[HTML][HTML] Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

AF Baas, M Gabbett, M Rimac, M Kansikas… - European journal of …, 2013 - nature.com
Constitutional mismatch repair deficiency (CMMR-D) syndrome is a rare inherited childhood
cancer predisposition caused by biallelic germline mutations in one of the four mismatch …