Toriello-Carey syndrome and unbalanced translocation t(8;18)(p12;q22).
Explore the source record for details and available documents.
Abnormalities, Multiple↗
Biomedical subjects
T Martin-Denavit
Publications and source records attributed to T Martin-Denavit.
First prenatal diagnosis of partial trisomy 10 and partial monosomy 15 derived from a maternal translocation (10;15)(q11;q13).
Explore the source record for details and available documents.
Chromosomes, Human, Pair 10↗
Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?
We report the cases of two familial adenomatous polyposis (FAP) families who presented with the same 2 base pair deletion (AG) at codon 1465 of the adenomatous polyposis coli (APC) gene, but showed phenotypic variability. The mutation was revealed by a simple nonradioactive method using a heteroduplex analysis and identified by a sequence analysis. This observation suggests the responsibility of modifier genes in FAP patients' phenotype.
Adenomatous Polyposis Coli↗
Ectodermal abnormalities associated with methimazole intrauterine exposure.
Explore the source record for details and available documents.
Abnormalities, Drug-Induced↗
Usefulness of procalcitonin in neonates at risk for infection.
Explore the source record for details and available documents.
Bacterial Infections↗