The great mimicker: Phenotypic overlap between constitutional mismatch repair deficiency and Tuberous Sclerosis complex

Author:

Shapira Rootman Mika12ORCID,Goldberg Yael32,Cohen Rony42,Kropach Nesia562,Keidar Inbal3,Friedland Rivka72,Dotan Gad82,Konen Osnat12,Toledano Helen92

Affiliation:

1. Department of RadiologySchneider Children's Medical Center of Israel Petach Tikva Israel

2. The Sackler faculty of MedicineTel Aviv University Tel Aviv Israel

3. The Raphael Recanati Genetic instituteRabin Medical Center Petach Tikva Israel

4. Neurology and epilepsy centerSchneider Children's Medical Center of Israel Petach Tikva Israel

5. The Genetics unitSchneider Children's Medical Center of Israel Petach Tikva Israel

6. The Department of Pediatrics "B"Schneider Children's Medical Center of Israel Petach Tikva Israel

7. The Dermatology UnitSchneider Children's Medical Center of Israel Petach Tikva Israel

8. The Wohl Ophthalmology and Blindness Prevention unitSchneider Children's Medical Center of Israel Petach Tikva Israel

9. The Rina Zaizov Hematology‐Oncology DivisionSchneider Children's Medical Center of Israel Petach Tikva Israel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1;Ricciardone MD;Cancer Res,1999

2. Neurofibromatosis and early onset of cancers in hMLH1‐deficient children;Wang Q;Cancer Res,1999

3. Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort

4. Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1

5. Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

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