Maria Hoeltzenbein

TL;DR: Compatibility with pregnancy and lactation was found for antimalarials, sulfasalazine, azathioprine, ciclosporin, tacrolimus, colchicine, intravenous immunoglobulin and glucocorticoids, and tumour necrosis factor inhibitors.

TL;DR: The wide-ranging and complex spectrum of phenotypes reported herein broadens those previously described for Alström syndrome and will aid physicians in making an early and accurate diagnosis and will help effect appropriate monitoring and treatment.

TL;DR: A study of two severely affected female patients with apparently de novo balanced X;autosome translocations, both disrupting the serine-threonine kinase 9 (STK9) gene, shows that STK9 is subject to X-inactivation in normal female somatic cells and is functionally absent in the two patients, because of preferential inactivation of the normal X.

TL;DR: The data indicate that TRPS III is at the severe end of theTRPS spectrum and that it is most often caused by a specific class of mutations in the TRPS1 gene.

TL;DR: This study confirms the mutation hot spot at positions R124 and R555 with nearly 50% of the mutations targeting these two amino acids (24/50) and confirms the genotype-phenotype correlation is domain specific, with all changes occurring at the boundary or within the fasc4 domain.