Kruppel-like factor 6 (KLF6) is a zinc finger transcription factor of unknown function. Here, we
show that the KLF6 gene is mutated in a subset of human prostate cancer. Loss-of …

May-Hegglin anomaly (MHA) and Fechtner (FTNS) and Sebastian (SBS) syndromes are
autosomal dominant platelet disorders that share macrothrombocytopenia and characteristic …

Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by
macroglossia, macrosomia, and abdominal wall defects. It is a multigenic disorder caused in …

Objective Mutations in the aggrecan gene (ACAN) have been identified in two autosomal
dominant skeletal dysplasias, spondyloepiphyseal dysplasia, Kimberley type (SEDK), and …

Purpose Short stature is a common condition of great concern to patients and their families.
Mostly genetic in origin, the underlying cause often remains elusive due to clinical and …

Context: Heterozygous mutations in the aggrecan gene (ACAN) cause autosomal dominant
short stature with accelerated skeletal maturation. Objective: We sought to characterize the …

Léri-Weill dyschondrosteosis (LWD) is a pseudoautosomal dominant disorder characterized
by disproportionate short stature and a characteristic curving of the radius, known as the" …

Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset
growth deficiency, short stature, an erythematous photosensitive malar rash, and increased …

Mutations in the low density lipoprotein receptor gene (LDLR) cause familial
hypercholesterolaemia (FH). The FH website (http://www. ucl. ac. uk/fh) has been updated to …

A genetic diagnostic service for familial hypercholesterolaemia (FH) has been established
over the last 4 years in the Clinical Molecular Genetics Laboratory at Great Ormond Street …