Rika Kosaki

TL;DR: In this paper, the authors have shown that Lefty mutations may be associated with human LR-axis malformations, and they have characterized two Lefty homologues, Lefty A and LEFTY B, separated by ∼50 kb on chromosome 1q42.

TL;DR: Colobomata, hearing loss, laryngomalacia, and vestibulo-cochlear defect were prevalent and molecular testing for CHD7 enables an accurate diagnosis and provides health anticipatory guidance and genetic counseling to families with CHARGE syndrome.

TL;DR: The results provide further support to the notion that PTPN11 mutations are responsible for the development of Noonan syndrome in a substantial fraction of patients and that relatively infrequent features ofnoonan syndrome, such as sensory deafness and bleeding diathesis, can also result from mutations of PTPn11.

TL;DR: The pleiotropic phenotypes of the disorders indicate that B3GALT6 plays a critical role in a wide range of biological processes in various tissues, including skin, bone, cartilage, tendon, and ligament.

TL;DR: This work performed whole-exome and/or Sanger sequencing analyses of 13 unrelated NPPK individuals and identified biallelic putative loss-of-function mutations in SERPINB7, which encodes a cytoplasmic member of the serine protease inhibitor superfamily.