G.P.11.10 Partial genomic deletions of RAPSN account for 15% of congenital myasthenic syndrome after negative DNA sequencing

Genomic deletions of OFD1 account for 23

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

✍ Christel Thauvin-Robinet; Brunella Franco; Pascale Saugier-Veber; Bernard Aral; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 118 KB

Oral-facial-digital type I syndrome (OFDI) is characterised by an X-linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, dental and distal abnormalities, polycystic kidney disease and central nervous system malformations. Considerable a