Friedhelm Hildebrandt
Geboren:
1957
Werke:
- X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
- Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis
- LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 translocation into the nucleus
- Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature