Pseudoxanthoma elasticum (PXE) is an inherited systemic disease of connective tissue
primarily affecting the skin, retina, and cardiovascular system. It is characterised …

HNF1B-related disease is an emerging condition characterized by an autosomal-dominant
inheritance, a 50% rate of de novo mutations, and a highly variable phenotype (renal …

Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular
development characterized by early onset and persistent fetal anuria leading to …

Hypohidrotic and anhidrotic ectodermal dysplasia (HED/EDA) is a rare genodermatosis
characterized by abnormal development of sweat glands, teeth, and hair. Three disease …

Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital
diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss …

Spontaneous pathologic arterial calcifications in childhood can occur in generalized arterial
calcification of infancy (GACI) or in pseudoxanthoma elasticum (PXE). GACI is associated …

Brain malformations are individually rare but collectively common causes of developmental
disabilities,,. Many forms of malformation occur sporadically and are associated with …

Mutations in HNF1B are responsible for a dominantly inherited disease with renal and
nonrenal consequences, including maturity-onset diabetes of the young (MODY) type 5 …

Hypertrophic Cardiomyopathy (HCM), a common and clinically heterogeneous disease
characterized by unexplained ventricular myocardial hypertrophy and a high risk of sudden …

Abstract Baraitser–Winter, Fryns–Aftimos and cerebrofrontofacial syndrome types 1 and 3
have recently been associated with heterozygous gain-of-function mutations in one of the …