| 概要 |
Neurofacioskeletal syndrome with or without renal agenesis (NFSRA) is a syndrome characterized by developmental delay, corpus callosum agenesis or hypoplasia, facial dysmorphism, short stature, and other skeletal abnormalities. The majority of patients have renal agenesis. It has been reported that mutations in HS2ST1 cause this syndrome. HS2ST1 is one of several specialized enzymes required for heparan sulfate synthesis and catalyzes the transfer of the sulfate groups to the sugar moiety of heparan sulfate.
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| 著者 |
Schneeberger PE, von Elsner L, Barker EL, Meinecke P, Marquardt I, Alawi M, Steindl K, Joset P, Rauch A, Zwijnenburg PJG, Weiss MM, Merry CLR, Kutsche K |
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