Mulibrey nanism (MUL) is an autosomal recessive disease caused by mutations in the
TRIM37 gene encoding the peroxisomal TRIM37 protein of unknown function. In this work …

Background This follow-up study aimed to assess the frequency of late effects on glucose
and lipid metabolism after bone-marrow transplantation in childhood. Methods 23 long-term …

Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases
have been described. We characterize 13 patients with DVD—5 with hemizygous paternal …

Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping
features. All these syndromes, Rothmund–Thomson (RTS), RAPADILINO and Baller–Gerold …

Mulibrey nanism (for muscle-liver-brain-eye nanism, MUL; MIM 253250) is an autosomal
recessive disorder that involves several tissues of mesodermal origin, implying a defect in a …

Aims/hypothesis. To investigate the contribution of mutations in maturity-onset diabetes of
the young (MODY) and mitochondrial genes to early-onset diabetes with a strong family …

Context: The H19 imprinting control region (ICR), located on chromosome 11p15. 5, has
been reported hypomethylated in 20–65% of Silver-Russell syndrome (SRS) patients …

Background The salivary α-amylase locus (AMY1) is located in a highly polymorphic multi
allelic copy number variable chromosomal region. A recent report identified an association …

The aims of this study were to evaluate the efficacy and safety of different doses of growth
hormone (GH) treatment in prepubertal short children born small‐for‐gestational‐age (SGA) …

Maternal uniparental disomy of chromosome 7 (matUPD7), the inheritance of both
chromosomes from only the mother, is observed in∼ 10% of patients with Silver-Russell …