… The two materials were obtained with high number-average molecular weights (M n = 84.0
kDa for P1 and M n = 49.5 kDa for P2) by Stille coupling reaction. The UV–Vis absorption …

In 1998, Mowat et al. described six patients with a new syndrome characterized by mental
retardation, a distinct facial appearance, microcephaly and Hirschsprung disease (HSCR). …

… Tenascin-M, also found to be deleted in IARC739 (Fig. 1 ), is … to SH2D1A), tenascin-M
cannot yet be excluded as a … Tenascin-M has homology to the Drosophila odd Oz gene 39 …

HIRSCHSPRUNG'S disease is a genetic disorder of neural crest development affecting 1 in
5,000 births. It is characterized by the absence of intramural ganglion cells in the hindgut, …

The diagnosis of inherited thrombocytopenias is difficult, for many reasons. First, as they are
all rare diseases, they are little known by clinicians, who therefore tend to suspect the most …

The autosomal dominant, giant-platelet disorders, May-Hegglin anomaly (MHA; MIM 155100),
Fechtner syndrome (FTNS; MIM 153640) and Sebastian syndrome (SBS), share the triad …

May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are
autosomal dominant macrothrombocytopenias distinguished by different combinations of …

Until recently, thrombocytopenia 2 (THC2) was considered an exceedingly rare form of
autosomal dominant thrombocytopenia and only 2 families were known. However, we recently …

In December 2019, an initial cluster of interstitial bilateral pneumonia emerged in Wuhan,
China. A human-to-human transmission was assumed and a previously unrecognized entity, …

THC2, an autosomal-dominant thrombocytopenia described so far in only two families, has
been ascribed to mutations in MASTL or ACBD5. Here, we show that ANKRD26, another …