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CAGSSS stands for a syndrome presenting with cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss and skeletal dysplasia. It is a very rare disorder for which so [...]

Smith-Lemli-Opitz syndrome is a well-described autosomal recessive disorder associated with a range of congenital malformations including among others postaxial polydactyly and 2-3 toe cutaneous [...]

Dowling-Degos disease is a skin pigmentation disorder characterized by small dark brown, partly hyperkeratotic spots and papules located in certain areas of the body. It is a genetically very [...]

The two halves of the human brain are connected by several so called commissures. These crossing tracts link structures of the right and the left cerebral hemisphere, mediating coordination and [...]

A plethora of factors act together in the cell to ensure that DNA is correctly duplicated and distributed to daughter cells during cell division. Scientists have now uncovered a new factor [...]

SMCHD1 encodes the structural maintenance of chromosomes flexible hinge domain containing 1 protein, a member of the large SMC protein family. It is involved in epigenetic regulation of various [...]

It is an extremely rare congenital disease with a very striking appearance: When children are born with no nose or with incompletely developed nasal structures, they have a condition called [...]

KMT2B belongs to the KMT2 gene family and encodes the lysine-specific histone methyltransferase 2B (KMT2B). KMT2B acts in a multiprotein complex which effects gene regulation by epigenetic [...]

CHD4 is a member of the CHD gene family and encodes the chromodomain helicase DNA-binding protein 4 (CHD4), a chromatin-remodelling protein that is involved in epigenetic gene regulation [...]