TY - JOUR AU - Honkala, Heli AU - Lahtela, Jenni AU - Fox, Heli AU - Gentile, Massimiliano AU - Pakkasjärvi, Niklas AU - Salonen, Riitta AU - Wartiovaara, Kirmo AU - Jauhiainen, Matti AU - Kestilä, Marjo PY - 2009 DA - 2009/04/28 TI - Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level JO - PathoGenetics SP - 2 VL - 2 IS - 1 AB - Hydrolethalus syndrome (HLS) is a severe fetal malformation syndrome characterized by multiple developmental anomalies, including central nervous system (CNS) malformation such as hydrocephaly and absent midline structures of the brain, micrognathia, defective lobation of the lungs and polydactyly. Microscopically, immature cerebral cortex, abnormalities in radial glial cells and hypothalamic hamartoma are among key findings in the CNS of HLS fetuses. HLS is caused by a substitution of aspartic acid by glycine in the HYLS1 protein, whose function was previously unknown. SN - 1755-8417 UR - https://doi.org/10.1186/1755-8417-2-2 DO - 10.1186/1755-8417-2-2 ID - Honkala2009 ER -