Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes

Abstrakt

We report on a Czech family with the initial diagnosis of HOS. The index patient (I.1; Fig. 1a) was born to clinically unaffected non-consanguineous parents.

Klíčová slova

• MUTATIONS
• LIMB
• GENOTYPE
• FAMILY
• HAPLOINSUFFICIENCY
• REPRESSION
• SPECTRUM
• DEFECTS
• OKIHIRO
• DOMAIN