More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for
mutations in the NF1 gene. For each patient, the whole coding sequence and all splice sites …

Background Dupuytren's disease is a benign fibromatosis of the hands and fingers that
leads to flexion contractures. We hypothesized that multiple genetic and environmental …

Pseudo-TORCH syndrome (PTS) is characterized by microcephaly, enlarged ventricles,
cerebral calcification, and, occasionally, by systemic features at birth resembling the …

Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of
blindness. They result from mutations in many genes which has long hampered …

Segmental neurofibromatosis (NF) is generally thought to result from a postzygotic NF1
(neurofibromatosis type 1) gene mutation. However, this has not yet been demonstrated at …

Craniometaphyseal dysplasia (CMD) is a bone dysplasia characterized by overgrowth and
sclerosis of the craniofacial bones and abnormal modeling of the metaphyses of the tubular …

Chromatin remodeling complexes are known to modify chemical marks on histones or to
induce conformational changes in the chromatin in order to regulate transcription. De novo …

Centrioles are essential for ciliogenesis. However, mutations in centriole biogenesis genes
have been reported in primary microcephaly and Seckel syndrome, disorders without the …

Brachydactyly type B (BDB) is an autosomal dominant skeletal disorder characterized by
hypoplasia/aplasia of distal phalanges and nails. Recently, heterozygous mutations of the …

A total of 500 unselected unrelated neurofibromatosis 1 (NF1) patients were screened for
deletions of the NF1 gene. After excluding 67 patients with known intragenic NF1 mutations …