Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification,
are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. This …

Studies of higher-order chromatin arrangements are an essential part of ongoing attempts
to explore changes in epigenome structure and their functional implications during …

We investigated the nuclear higher order compartmentalization of chromatin according to its
replication timing ( Ferreira et al. 1997 ) and the relations of this compartmentalization to …

Because p53 mutation and aneuploidy usually coexist, it has been suggested that p53
inactivation leads to aneuploidy. We have rigorously tested this hypothesis in diploid human cell …

We report on an autosomal-recessive variant of Ehlers-Danlos syndrome (EDS)
characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, …

Multiple endocrine neoplasia type 2 is characterized by germline mutations in RET. For
exon 10, comprehensive molecular and corresponding phenotypic data are scarce. The …

Background Williams–Beuren syndrome (WBS) is a developmental disorder with multisystemic
manifestations mainly characterised by vascular stenoses, distinctive craniofacial features…

Lipoic acid is an essential prosthetic group of four mitochondrial enzymes involved in the
oxidative decarboxylation of pyruvate, α-ketoglutarate, and branched chain amino acids and in …

Background Since 1980, about 100 types of congenital disorders of glycosylation (CDG)
have been reported representing an expanding group of inherited disorders. ALG8-CDG (= …

We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149,
p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University …