Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset
of genes, is required for normal development, and its disruption leads to human disease. …

Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized
by phenotypic variability that might include overgrowth, macroglossia, abdominal wall …

This Consensus Statement summarizes recommendations for clinical diagnosis, investigation
and management of patients with Silver–Russell syndrome (SRS), an imprinting disorder …

Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic
kidney disease that presents primarily in infancy and childhood and that is characterized by …

Using genome-wide association, we identify common variants at 2p12–p13, 6q26, 17q23
and 19q13 associated with serum creatinine, a marker of kidney function (P = 10 −10 to 10 −15 …

Hartnup disorder, an autosomal recessive defect named after an English family described in
1956 (ref. 1 ), results from impaired transport of neutral amino acids across epithelial cells in …

This Consensus Statement covers recommendations for the diagnosis and management of
patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise …

Objective: Homozygous deletions/mutations of the SMN1 gene cause infantile spinal
muscular atrophy (SMA). The presence of at least one SMN2 gene copy is required for normal …

<p id="p001">In humans, mutations in <italic>IGF1</italic> or <italic>IGF1R</italic> cause
intrauterine and postnatal growth restriction; however, data on mutations in <italic>IGF2,</italic…

ABSTRACT. Autosomal recessive polycystic kidney disease (ARPKD/PKHD1) is an important
cause of renal-related and liver-related morbidity and mortality in childhood. Recently …