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Constitutional symptom
- Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare disorder that greatly increases the risk of developing different types of cancer throughout a person' ...
- ... KA. HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and ...
- ... but they typically do not show signs and symptoms of the condition.When the condition is caused by a ... liver dysfunction Familial nonhemolytic jaundice Gilbert disease Gilbert' ...
- ... Swansbury J, Irrthum A, Douglas J, Rahman N. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations ...
- ... and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet. 1999 Jun;55( ...
- ... L. Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence ...
- ... Zhang J, Yokoo S, Umeda M, Komori T. Constitutional mutation of keratin 13 gene in familial white ...
- ... and 11q23 as the etiology for the recurrent constitutional t(11;22). Hum Mol Genet. 2000 Jul ...
- ... KA. HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and ...
- ... L. Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence ...