| 概要 |
Marbach-Schaaf neurodevelopmental syndrome (MASNS) is a neurodevelopmental disorder with global developmental delay, autism spectrum disorder, and apraxia/dyspraxia. It has been reported mutations in PRKAR1B cause this syndrome. PRKAR1B encodes a regulatory subunit of the cyclic AMP-dependent protein kinase A protein complex.
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| 著者 |
Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH, Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiss S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP |
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