CDH1 mutations, and less often TP53, drive HDGC, a cancer that spreads through the stomach lining; sequencing can identify carriers before cancer develops.
Red cells take a sphere shape when membrane proteins are faulty, causing anemia, jaundice and an enlarged spleen. Genetic and imaging tests pin down the cause.
Part of the stomach pushes through the diaphragm in either a sliding or paraesophageal form, with heartburn, regurgitation and swallowing difficulty as symptoms.
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Autosomal dominant inheritance means one altered copy causes this hip disorder, which brings early-onset pain and reduced mobility beginning in childhood.
Several genes contribute to this bowel condition, but testing has limits: a study of southern Chinese children found no link with the PCSK2 SNP rs16998727.
Mutations in Sonic Hedgehog signaling disturb midline development, and newer work points to gene modifiers acting alongside the known driver mutations.
Failure of the forebrain to split into two hemispheres produces craniofacial and neurological effects, and carrier status informs recurrence risk in later pregnancies.